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1/41. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

    We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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2/41. Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.

    We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. A review of few reports on this unusual association is presented and the possible pathogenetic mechanism is discussed.
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3/41. Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.

    Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits. The majority of the familial cases are inherited in an autosomal dominant manner. Here we report on nine cases of SHFM in an inbred kindred. A variable intrafamilial expression of the malformation pattern is apparent. Autosomal recessive inheritance and a two-locus model are discussed.
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4/41. Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

    This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.
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5/41. Congenital absence of the 5th digital ray and its proximal segmental structures.

    Limb reduction anomalies involving digits or parts of limbs are not uncommon. Most cases take the form of terminal transverse absence defects involving hypoplasia or aplasia of all structures distal to a particular level on a limb with relative preservation of the more proximal tissues. Longitudinal absence defects are a more rare form of limb reduction anomalies. Structures within one or more digital rays are typically involved. More proximal segmental tissues may also be affected with the most serious cases resulting in absence of the radius or ulna. We report a case of isolated, longitudinal absence of the 5th finger and its corresponding proximal segmental structures in a newborn infant. The embryology of limb development and possible etiologies for skeletal absence defects are summarized.
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6/41. A variant of mirror hand: a case report.

    We report a variant of mirror hand in a 3.5-year-old boy who presented with multiple fingers. The x-ray revealed an attempt at fusion of 2 hypoplastic radii, 1 ulna, and multiple fingers. The unique feature of this case is a broad radius with proximal notching suggesting failed incomplete duplication. The reasons for this duplication and duplication of the fingers appear to be different.
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keywords = ray, x-ray
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7/41. Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

    We describe a two generation family with variable ulnar and radial ray reduction and midline craniofacial abnormalities. The features suggest a diagnosis of Weyers' ulnar ray/oligodactyly syndrome originally described in two isolated cases. Syndromes of ulnar ray reduction are briefly reviewed and the relationship between limb bud and midline development discussed.
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8/41. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.

    The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.
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9/41. VACTERL association with a cleft hand.

    Regarding radial ray deficiency, several reports suggest that preaxial limb anomalies occur frequently, while postaxial limb anomalies and cleft hand (split-hands) are rarely associated with VACTERL. We describe a rare clinical case of VACTERL with cleft hand and a number of visceral anomalies.
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10/41. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

    In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3. This is only the second detailed report of the clinical features of the SHFM3 linked syndrome in a large pedigree. Within this family the expressivity of the condition ranges from the classical ectrodactyly deformity to partial absence of the thumb and agenesis of the distal tip of the index finger. There is discordant limb severity, with the feet more severely affected than the hands. Two individuals have a nail dysplasia indicating the presence of a minor ectodermal component. A cleft palate was present in one individual. Radiological features of family members include short metacarpals with rounded proximal heads, agenesis of the radial ray, epiphysial coning, and an unusual supernumerary ossicle opposed to the distal phalanx of the left thumb. Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24. A meiotic recombination event enabled exclusion of a maximum of 1.9 Mb of dna from the previously known critical region thereby narrowing the critical interval to between D10S1265 and D10S222, with the minimal critical region being between D10S1240 and D10S1267. Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly.
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