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Research paper thumbnail of {"__content__"=>"Methylmalonic Acidemia with Novel Gene Mutations.", "i"=>{"__content__"=>"MUT"}}

Case reports in genetics, 2017

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the... more A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.

Research paper thumbnail of Hydroxyurea in Children with Beta Thalassemia Intermedia

Blood

The beneficial effects of hydroxyurea (HU) have been well documented in sickle cell disease. Its ... more The beneficial effects of hydroxyurea (HU) have been well documented in sickle cell disease. Its usefulness in thalassemia syndromes has not been clearly elucidated. The aim of the study was to analyse the efficacy and side effects of HU in children with beta thalassemia intermedia (TI). The data of 73 children with TI were retrospectively analysed. Response to HU was assessed by change in hemoglobin (Hb) level and by a fall in transfusion requirements. An increase in Hb level was observed in 46 (63.0%) of 73 patients; the response was categorised as good in 43 and partial in 13 cases. There was a poor or no response in the remaining 27 (37.0%) children. Significant rise in Hb levels were documented after HU therapy; the responses were better in patients diagnosed beyond the age of 3 years (p=0.001). A fall in transfusion requirements by >50% was observed in 28 (66.7%) of the 42 patients who received transfusion prior to referral. There were no serious side-effects inspite of pro...

Research paper thumbnail of The first case report of a patient with coexisting hemophilia B and Down syndrome

Research paper thumbnail of HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions

Indian journal of pathology & microbiology, 2007

Iron overload is a well-documented complication in thalassemia intermedia. Moreover, it is seen t... more Iron overload is a well-documented complication in thalassemia intermedia. Moreover, it is seen that the number of blood transfusions received does not correlate with the degree of overload. Since, HFE gene is associated with iron overload; the present study was conducted in an attempt to evaluate its role in thalassemia intermedia. The subjects were consecutive thalassemia intermedia cases attending the Hematology outpatient clinic. Controls were healthy hospital staff with negative family history of hemolytic anemia or liver disease. The molecular analysis for HFE mutations H63D and C282Y were done with primers described earlier. ELISA was used to measure serum ferritin. Sixty-three patients of thalassemia intermedia including 48 beta-homozygous/heterozygous thalassemia intermedia and 15 HbE-beta-thalassemia were studied. Six (12.5%) of the former and two (13.3%) of the latter were heterozygous for H63D; one of which, a 51-year old male also had clinical features of hemochromatosi...

Research paper thumbnail of Clinical and molecular diagnosis of spinal muscular atrophy

Neurology India, 2002

The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It... more The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA.

Research paper thumbnail of Thromboembolic complications in β-thalassemia: Beyond the horizon

Thrombosis Research, 2007

Patients with β-thalassemia have a chronic hypercoagulable state with increased incidence of thro... more Patients with β-thalassemia have a chronic hypercoagulable state with increased incidence of thromboembolic episodes. The thrombotic complications are more common in thalassemia intermedia than in regularly transfused thalassemia major. The pathophysiologic defects include inherent red cell defects, platelet abnormalities, deficiency of coagulation inhibitors, and additional acquired abnormalities like cardiac and liver dysfunction, hormonal deficiencies. These factors and possible preventive measures are discussed in this review. An illustrative case is also presented.

Research paper thumbnail of Spectrum of anemia in pregnant Indian women and importance of antenatal screening

Indian journal of pathology & microbiology, 2006

Anemia is a common health problem but control of anemia in pregnant women is less well studied. T... more Anemia is a common health problem but control of anemia in pregnant women is less well studied. The purpose was to study prevalence of anemia in young pregnant women, correlate with indices and study significance of identification of hemoglobinopathies. Of the 120 pregnant women, Hb was less than 8 g% in 58 (44.2%). Seventy-eight (65%) had iron deficiency, 22 (18.3%) had dimorphic anemia, and 14 (11.6%) had hemolytic anemia. Megaloblastic anemia was present in 6 (5%). Of hemolytic anemia, 50% were thalassemia trait. MCV< 76 fl was observed in 88 (73.3 %) cases. MCV<76 fl and MCH < 27 pg had 100 % sensitivity and 28.7 % specificity for screening of beta-thalassemia trait. NESTROFT had comparable sensitivity but lower specificity (14.9%). Sixty-three percent (60/78) of IDA had increased RDW whereas 78 % (11/14) of hemolytic anemia had RDW value in normal range (p value< 0.05). MCV/RBC of <14 was more specific parameter (96.8%) for beta-thalassemia trait. Four high-risk ...

Research paper thumbnail of Thyroid dysfunction in Indian children with down syndrome

Indian Pediatrics, 2014

This record review of 82 children with Down Syndrome (DS) between April 2004 and March 2014 who h... more This record review of 82 children with Down Syndrome (DS) between April 2004 and March 2014 who had thyroid dysfunction, showed that majority (76, 92.6%) had subclinical hypothyroidism. Of the 60 patients who underwent radionuclide scan, 63.3% had a normal gland; the rest exhibited only impaired tracer uptake. Ultrasonograms done in 20 patients showed reduction of thyroid gland size in 3 (15%) patients only.

Research paper thumbnail of Prenatal diagnosis of Sheldon Hall syndrome

Research paper thumbnail of Non-invasive prenatal diagnosis: improved detection rates

Research paper thumbnail of Efficacy of Deferasirox in North Indian β-Thalassemia Major Patients

Journal of Pediatric Hematology/Oncology, 2012

Deferasirox (DFX) is a relatively new iron chelator approved by the US Food and Drug Administrati... more Deferasirox (DFX) is a relatively new iron chelator approved by the US Food and Drug Administration for treatment of children &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;2 years of age. Prospective studies in Asian Indian children are limited. The β-thalassemia patients receiving regular transfusions in the thalassemia ward of an advanced pediatric center were included in this study. Monitoring of side effects was carried out by assessing monthly transaminases and serum creatinine levels. Hemoglobin levels were determined before blood transfusion. Thirty patients of transfusion-dependent thalassemia were eligible for the final analysis. The male:female ratio was 3.3:1, and ages ranged from 2.0 to 21 years. The serum ferritin (SF) level at the start of therapy was 2657.7±1414.6 (mean±SD). The mean dose of DFX was 21.57 mg/kg/d (range, 17.2 to 27.2 mg/kg/d). Common side effects noted were gastrointestinal manifestations in 5 (16.6%) and skin rash in 2 (6.6%) patients. There was an increase in serum creatinine in 2 patients, and treatment was interrupted in 1. Reversible cytopenia was observed in 1 patient. In 13/30 patients, an initial increase in SF was observed. A decrease in SF levels compared with initial value was seen in only 8 patients at a follow-up of 24 months, at a median dose of 28.8 mg/kg/d. Thus, DFX is a relatively safe oral iron chelator that can be used in Asian Indians, with gastrointestinal problems like diarrhea and abdominal pain as the most common side effects. Treatment requires individualization with careful dose escalation and proper monitoring.

Research paper thumbnail of Spontaneous Hematomyelia in a Child With Hemophilia A

Journal of Pediatric Hematology/Oncology, 2009

Hemorrhagic complications in patients with hemophilia have been occasionally reported in the spin... more Hemorrhagic complications in patients with hemophilia have been occasionally reported in the spinal column and the spinal cord. Treatment is based on prompt replacement therapy as the occurrence and development of neurologic dysfunction are related to the length of time between the onset of symptoms and the factor replacement. We report case of a 7-year-old hemophilic boy who presented with flaccid paraparesis resulting from thoracic hematomyelia. The patient showed gradual improvement on medical management with cryoprecipitate infusions. This case calls attention to the need for prompt diagnosis of rarely reported spinal hematomyelia based on clinical manifestations and radiologic features and highlights its management options in patients with hemophilia.

Research paper thumbnail of Craniosynostosis genetics: The mystery unfolds

Indian Journal of Human Genetics, 2011

Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal s... more Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling.

Research paper thumbnail of Genetic determinants of phenotype in beta-thalassemia

Hematology, 2008

Modifier genes are defined as inherited genetic variation that leads to a qualitative or quantita... more Modifier genes are defined as inherited genetic variation that leads to a qualitative or quantitative difference in disease phenotype. This has made the prediction of the phenotype based upon the genotype more difficult. Beta-thalassemia phenotype is modified by co-existent other genetic alterations. Changes alpha/beta-globin ratio can either ameliorate the disease phenotype or increase the severity of the disease in beta-thalassemia. Primary modifiers primarily affecting the clinical presentation include alpha gene changes, XmnI polymorphism and hereditary persistence of fetal hemoglobin (HPFH) variants. &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;Thalassemia intermedia&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; is a heterogenous group with interplay of several genetic factors. The nature of the beta-genotype as well as the knowledge of the presence or absence of alleviating factors help the physician to decide on commencement of a regular transfusion regime or other lines of management including hydroxyurea therapy. The secondary modifiers affect the severity of jaundice, bone disease, cardiac and thrombotic complications. The present review gives a concise discussion of various modifying genes and the influence on the phenotype of beta-thalassemia.

Research paper thumbnail of Fibular hemimelia with polysyndactyly: a case report

Clinical Dysmorphology, 2010

Research paper thumbnail of Reply to correspondence from Cobben and de Visser- ?SMN2-deletion in childhood-onset spinal muscular atrophy?

American Journal of Medical Genetics, 2002

Research paper thumbnail of A Newborn with Acanthosis Nigricans: Can It Be Crouzon Syndrome with Acanthosis Nigricans?

Pediatric Dermatology, 2010

Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism... more Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism, exophthalmos, external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and mandibular prognathism. The 5% of individuals with Crouzon syndrome who have pigmentary changes in the skin are said to have Crouzon syndrome with acanthosis nigricans (CAN). Choanal atresia, hydrocephalus and the cranial features of Crouzon syndrome should suggest the diagnosis of CAN even before acanthosis appears. We present a 10-hour-old newborn who presented with bilateral choanal atresia, craniosynostosis and acanthosis nigricans. Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. Of the 35 cases of CAN reported in literature till date, only one child had acanthosis nigricans at birth. This is the first case from India to have been reported with this mutation.

Research paper thumbnail of {"__content__"=>"Methylmalonic Acidemia with Novel Gene Mutations.", "i"=>{"__content__"=>"MUT"}}

Case reports in genetics, 2017

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the... more A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.

Research paper thumbnail of Hydroxyurea in Children with Beta Thalassemia Intermedia

Blood

The beneficial effects of hydroxyurea (HU) have been well documented in sickle cell disease. Its ... more The beneficial effects of hydroxyurea (HU) have been well documented in sickle cell disease. Its usefulness in thalassemia syndromes has not been clearly elucidated. The aim of the study was to analyse the efficacy and side effects of HU in children with beta thalassemia intermedia (TI). The data of 73 children with TI were retrospectively analysed. Response to HU was assessed by change in hemoglobin (Hb) level and by a fall in transfusion requirements. An increase in Hb level was observed in 46 (63.0%) of 73 patients; the response was categorised as good in 43 and partial in 13 cases. There was a poor or no response in the remaining 27 (37.0%) children. Significant rise in Hb levels were documented after HU therapy; the responses were better in patients diagnosed beyond the age of 3 years (p=0.001). A fall in transfusion requirements by >50% was observed in 28 (66.7%) of the 42 patients who received transfusion prior to referral. There were no serious side-effects inspite of pro...

Research paper thumbnail of The first case report of a patient with coexisting hemophilia B and Down syndrome

Research paper thumbnail of HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions

Indian journal of pathology & microbiology, 2007

Iron overload is a well-documented complication in thalassemia intermedia. Moreover, it is seen t... more Iron overload is a well-documented complication in thalassemia intermedia. Moreover, it is seen that the number of blood transfusions received does not correlate with the degree of overload. Since, HFE gene is associated with iron overload; the present study was conducted in an attempt to evaluate its role in thalassemia intermedia. The subjects were consecutive thalassemia intermedia cases attending the Hematology outpatient clinic. Controls were healthy hospital staff with negative family history of hemolytic anemia or liver disease. The molecular analysis for HFE mutations H63D and C282Y were done with primers described earlier. ELISA was used to measure serum ferritin. Sixty-three patients of thalassemia intermedia including 48 beta-homozygous/heterozygous thalassemia intermedia and 15 HbE-beta-thalassemia were studied. Six (12.5%) of the former and two (13.3%) of the latter were heterozygous for H63D; one of which, a 51-year old male also had clinical features of hemochromatosi...

Research paper thumbnail of Clinical and molecular diagnosis of spinal muscular atrophy

Neurology India, 2002

The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It... more The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis in the affected families. Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA.

Research paper thumbnail of Thromboembolic complications in β-thalassemia: Beyond the horizon

Thrombosis Research, 2007

Patients with β-thalassemia have a chronic hypercoagulable state with increased incidence of thro... more Patients with β-thalassemia have a chronic hypercoagulable state with increased incidence of thromboembolic episodes. The thrombotic complications are more common in thalassemia intermedia than in regularly transfused thalassemia major. The pathophysiologic defects include inherent red cell defects, platelet abnormalities, deficiency of coagulation inhibitors, and additional acquired abnormalities like cardiac and liver dysfunction, hormonal deficiencies. These factors and possible preventive measures are discussed in this review. An illustrative case is also presented.

Research paper thumbnail of Spectrum of anemia in pregnant Indian women and importance of antenatal screening

Indian journal of pathology & microbiology, 2006

Anemia is a common health problem but control of anemia in pregnant women is less well studied. T... more Anemia is a common health problem but control of anemia in pregnant women is less well studied. The purpose was to study prevalence of anemia in young pregnant women, correlate with indices and study significance of identification of hemoglobinopathies. Of the 120 pregnant women, Hb was less than 8 g% in 58 (44.2%). Seventy-eight (65%) had iron deficiency, 22 (18.3%) had dimorphic anemia, and 14 (11.6%) had hemolytic anemia. Megaloblastic anemia was present in 6 (5%). Of hemolytic anemia, 50% were thalassemia trait. MCV< 76 fl was observed in 88 (73.3 %) cases. MCV<76 fl and MCH < 27 pg had 100 % sensitivity and 28.7 % specificity for screening of beta-thalassemia trait. NESTROFT had comparable sensitivity but lower specificity (14.9%). Sixty-three percent (60/78) of IDA had increased RDW whereas 78 % (11/14) of hemolytic anemia had RDW value in normal range (p value< 0.05). MCV/RBC of <14 was more specific parameter (96.8%) for beta-thalassemia trait. Four high-risk ...

Research paper thumbnail of Thyroid dysfunction in Indian children with down syndrome

Indian Pediatrics, 2014

This record review of 82 children with Down Syndrome (DS) between April 2004 and March 2014 who h... more This record review of 82 children with Down Syndrome (DS) between April 2004 and March 2014 who had thyroid dysfunction, showed that majority (76, 92.6%) had subclinical hypothyroidism. Of the 60 patients who underwent radionuclide scan, 63.3% had a normal gland; the rest exhibited only impaired tracer uptake. Ultrasonograms done in 20 patients showed reduction of thyroid gland size in 3 (15%) patients only.

Research paper thumbnail of Prenatal diagnosis of Sheldon Hall syndrome

Research paper thumbnail of Non-invasive prenatal diagnosis: improved detection rates

Research paper thumbnail of Efficacy of Deferasirox in North Indian β-Thalassemia Major Patients

Journal of Pediatric Hematology/Oncology, 2012

Deferasirox (DFX) is a relatively new iron chelator approved by the US Food and Drug Administrati... more Deferasirox (DFX) is a relatively new iron chelator approved by the US Food and Drug Administration for treatment of children &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;2 years of age. Prospective studies in Asian Indian children are limited. The β-thalassemia patients receiving regular transfusions in the thalassemia ward of an advanced pediatric center were included in this study. Monitoring of side effects was carried out by assessing monthly transaminases and serum creatinine levels. Hemoglobin levels were determined before blood transfusion. Thirty patients of transfusion-dependent thalassemia were eligible for the final analysis. The male:female ratio was 3.3:1, and ages ranged from 2.0 to 21 years. The serum ferritin (SF) level at the start of therapy was 2657.7±1414.6 (mean±SD). The mean dose of DFX was 21.57 mg/kg/d (range, 17.2 to 27.2 mg/kg/d). Common side effects noted were gastrointestinal manifestations in 5 (16.6%) and skin rash in 2 (6.6%) patients. There was an increase in serum creatinine in 2 patients, and treatment was interrupted in 1. Reversible cytopenia was observed in 1 patient. In 13/30 patients, an initial increase in SF was observed. A decrease in SF levels compared with initial value was seen in only 8 patients at a follow-up of 24 months, at a median dose of 28.8 mg/kg/d. Thus, DFX is a relatively safe oral iron chelator that can be used in Asian Indians, with gastrointestinal problems like diarrhea and abdominal pain as the most common side effects. Treatment requires individualization with careful dose escalation and proper monitoring.

Research paper thumbnail of Spontaneous Hematomyelia in a Child With Hemophilia A

Journal of Pediatric Hematology/Oncology, 2009

Hemorrhagic complications in patients with hemophilia have been occasionally reported in the spin... more Hemorrhagic complications in patients with hemophilia have been occasionally reported in the spinal column and the spinal cord. Treatment is based on prompt replacement therapy as the occurrence and development of neurologic dysfunction are related to the length of time between the onset of symptoms and the factor replacement. We report case of a 7-year-old hemophilic boy who presented with flaccid paraparesis resulting from thoracic hematomyelia. The patient showed gradual improvement on medical management with cryoprecipitate infusions. This case calls attention to the need for prompt diagnosis of rarely reported spinal hematomyelia based on clinical manifestations and radiologic features and highlights its management options in patients with hemophilia.

Research paper thumbnail of Craniosynostosis genetics: The mystery unfolds

Indian Journal of Human Genetics, 2011

Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal s... more Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling.

Research paper thumbnail of Genetic determinants of phenotype in beta-thalassemia

Hematology, 2008

Modifier genes are defined as inherited genetic variation that leads to a qualitative or quantita... more Modifier genes are defined as inherited genetic variation that leads to a qualitative or quantitative difference in disease phenotype. This has made the prediction of the phenotype based upon the genotype more difficult. Beta-thalassemia phenotype is modified by co-existent other genetic alterations. Changes alpha/beta-globin ratio can either ameliorate the disease phenotype or increase the severity of the disease in beta-thalassemia. Primary modifiers primarily affecting the clinical presentation include alpha gene changes, XmnI polymorphism and hereditary persistence of fetal hemoglobin (HPFH) variants. &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;Thalassemia intermedia&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; is a heterogenous group with interplay of several genetic factors. The nature of the beta-genotype as well as the knowledge of the presence or absence of alleviating factors help the physician to decide on commencement of a regular transfusion regime or other lines of management including hydroxyurea therapy. The secondary modifiers affect the severity of jaundice, bone disease, cardiac and thrombotic complications. The present review gives a concise discussion of various modifying genes and the influence on the phenotype of beta-thalassemia.

Research paper thumbnail of Fibular hemimelia with polysyndactyly: a case report

Clinical Dysmorphology, 2010

Research paper thumbnail of Reply to correspondence from Cobben and de Visser- ?SMN2-deletion in childhood-onset spinal muscular atrophy?

American Journal of Medical Genetics, 2002

Research paper thumbnail of A Newborn with Acanthosis Nigricans: Can It Be Crouzon Syndrome with Acanthosis Nigricans?

Pediatric Dermatology, 2010

Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism... more Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism, exophthalmos, external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and mandibular prognathism. The 5% of individuals with Crouzon syndrome who have pigmentary changes in the skin are said to have Crouzon syndrome with acanthosis nigricans (CAN). Choanal atresia, hydrocephalus and the cranial features of Crouzon syndrome should suggest the diagnosis of CAN even before acanthosis appears. We present a 10-hour-old newborn who presented with bilateral choanal atresia, craniosynostosis and acanthosis nigricans. Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. Of the 35 cases of CAN reported in literature till date, only one child had acanthosis nigricans at birth. This is the first case from India to have been reported with this mutation.