Familial radial dyplasia with renal ectopia (original) (raw)
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Radiology Case Reports, 2020
Radial longitudinal deficiency is a rare skeletal anomaly characterized by a defect in the development of structures that form the radial half of the forearm. The disorder is associated with a large spectrum of preaxial abnormalities. It is shown that the thumb and preaxial carpal bones are almost always hypoplastic or absent in almost all types of radial longitudinal deficiency. Congenital dislocation of the dysplastic radial head may accompany this rare deformity. Herein, we present a 20-year-old male patient with radial longitudinal deficiency who had a markedly hypoplastic radius but had a thumb and carpal bones with normal size, shape, and joint relations. Further, the right radial longitudinal deficiency of our patient was unusually accompanied by left congenital radial head dislocation. Our case shows that, although rare, radial longitudinal deficiency can present without any carpal and thumb abnormalities. And the current case also shows that a contralateral sided congenital radial head dislocation may accompany radial longitudinal deficiency.
Congenital anomalies of kidney and hand: a review
Clinical Kidney Journal, 2013
Acro-renal syndrome' refers to co-occurrence of congenital renal and limb anomalies. The term acro-renal syndrome was coined by Curran et al. in 1972 though Dieker and Opitz were the first to report this phenomenon in three male patients in 1969. The common limb defects include oligodactyly, ectrodactyly, syndactyly or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral renal hypoplasia, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities. The acro-renal syndrome as originally described is rare, reported only in ∼20 patients in the international literature. We report a 23-year-old male patient with renal anomalies in the form of absent right kidney, left-sided vesicoureteric reflux (VUR) and skeletal anomalies viz short radius, absent first metacarpal ray in left hand and left undescended testis, consistent with Dieker's type acro-renal syndrome. Apart from the classical acro-renal syndrome, several anomalies of acro-renal patterns and the abnormal gene loci involved are described in the literature. This article is a comprehensive review of the development of kidneys, types of acro-renal syndromes, congenital anomalies of the kidney and urinary tract (CAKUT), syndromes associated with combined limb and renal anomalies, and anomalies associated with URA.
Congenital longitudinal radial deficiency in infants: Spectrum of isolated cases to VACTERL syndrome
Journal of Clinical Neonatology, 2013
Congenital longitudinal radial defi ciency is a rare congenital anomaly and encompasses a spectrum ranging from mild hypoplasia to complete absence of radius. Furthermore known as radial club hand or radial dysplasia, there is variable degree of defi ciency along the radial side of the limb. The authors report a case series of four cases; two cases of isolated radial club hand and two associated with other anomalies, including VACTERL syndrome. The rarity of the disease and the need to exclude other associated anomalies are emphasized.
Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences, 2013
Ulnar hypoplasia is a rare longitudinal limb deficiency in which the ulna shows various degrees of deficiency. The condition is normally associated with radial defects, and in severe cases there is a reduction of postaxial/ulnar digits. Ulnar deficiency is an integral part of several syndromic malformations like Weyer's oligodactyly syndrome, limb/pelvis hypoplasia/aplasia syndrome, and ulnar-mammary syndrome. Here, we report an isolated unilateral ulnar deficiency in a boy who was a product of a consanguineous marriage. The subject demonstrated mesomelic shortening of the left arm with reduced zeugopod and autopod, and preaxial absence of two fingers. Additional findings in the affected limb were severe flexion contracture at the elbow joint, reduced and narrow palm, hypoplastic digits, and clinodactyly. Roentgenographic study revealed rudimentary ulna, dysplastic and posteriorly dislocated radius, crowding of carpals, and complete absence of digit rays of the thumb and index f...
Congenital Radial Club Hand: Results of Centralization in 10 Cases
2000
Congenital radial club hand is an intercalary or terminal deficiency characterized by radial deviation of the hand, marked shortening of the forearm, and generalized underdevelopment of the extremity. We performed centralization of the ulna in 12 forearms of 10 patients with severe congenital radial club hands. The mean follow up was 42 months after operation (24 to 68 months). The
Challenging management of congenital bilateral radial club hand: A case report
Case Reports in Clinical Medicine, 2014
Congenital radial club hand (CRCH) is a terminal deficiency characterized by the radial deviation of the hand, marked shortening of the forearm, and generalized underdevelopment of the extremity with an incidence rate of 1 per 100,000 live births. Both sexes are nearly or equally affected. Challenges that the disease poses to the patient are multifaceted, ranging from medical, social, cosmetic and functional issues which also are the multidimensional treatment modalities. We report a case of a 2-month-old baby with the severe case of bilateral CRCH. The patient had the centralization of the left ulna with Kwire stabilization. About 160 d of correction was achieved. He did well and was discharged after two weeks at the orthopedic clinic for follow-up. Congenital radial club hand though uncommon may be amenable to surgery. Centralization is still the treatment of choice in severe cases and early intervention will offer a better outcome.
Association of Radial Longitudinal Deficiency and Thumb Hypoplasia
Journal of Bone and Joint Surgery, 2020
Background: Deficiency of the radial aspect of the forearm and hand is the most common congenital longitudinal deficiency of the upper limb. Radial longitudinal deficiency is associated with several named syndromes. The purpose of the present study was to explore patterns of radial longitudinal deficiency and thumb hypoplasia in syndromes and to examine the severity of these differences across various syndromes. Methods: Data were collected from the Congenital Upper Limb Differences (CoULD) registry. Congenital differences are classified in the registry with use of the Oberg-Manske-Tonkin (OMT) classification system. Diagnosis of a syndrome by a physician as noted in the CoULD registry was recorded. Thumb deficiency and radial deficiency were classified according to the modified versions of the Blauth criteria and the Bayne and Klug criteria, respectively. Results: We identified 259 patients with 383 affected limbs with radial deficiency. Eighty-three of these patients had a diagnosed syndrome. The severity of radial deficiency was correlated with the severity of thumb deficiency. The Kendall tau coefficient indicated significant correlation between radial severity and thumb severity (tau = 0.49 [95% confidence interval = 0.40 to 0.57]; p < 0.05). Subjects with a syndrome were twice as likely to have bilateral deficiency and 2.5 times more likely to have both radial and thumb deficiency compared with subjects without a syndrome. Subjects with VACTERL syndrome (vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) had patterns of thumb and radial deficiency similar to the general cohort, whereas subjects with Holt-Oram syndrome, TAR (thrombocytopenia absent radius) syndrome, and Fanconi anemia demonstrated varied presentations of thumb and radial deficiency. Conclusions: The present study investigated the characteristics of patients with radial longitudinal deficiency and thumb hypoplasia. Our results support the findings of previous research correlating the severity of radial deficiency with the severity of thumb deficiency. Furthermore, we identified characteristic features of patients with radial longitudinal deficiency and associated syndromes. *A list of the CoULD Study Group members is given in a note at the end of the article. Disclosure: The Harold Williams Summer Research Fellowship was provided by Tufts University School of Medicine to support a student researcher (M.F.). No other sources of funding were used, and funding did not play a role in the study. On the Disclosure of Potential Conflicts of Interest forms, which are provided with the online version of the article, one or more of the authors checked "yes" to indicate that the author had a relevant financial relationship in the biomedical arena outside the submitted work and "yes" to indicate that the author had other relationships or activities that could be perceived to influence, or have the potential to influence, what was written in this work (http://links.lww.com/JBJS/G60).
Congenital Anomalies of the Hand
Journal of Craniofacial Surgery, 2009
To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.
Upper limb anomalies and renal disease
Clinical Genetics, 2008
Two brothers with upper limb and renal anomalies have been identified. Their upper limb abnormalities were characterized by absence and hypoplasia of various bones; their renal anomalies included crossed-fused ectopia and vesico-ureteral reflux. Both suffered from chronic kidney failurc secondary to reflux nephropathy. An autosomal or scxlinked mode of inheritance seems likely. Fig. 2. Photograph of SW demonstrating upper limb anomalies and short stature.