11/399. Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?We report a family in which four members of three generations are affected by median cleft palate. The proband and her mother have additional features including bilateral single transverse palmar creases, broad great toes and hypoplastic fifth toenails. Dominant isolated cleft palate has rarely been reported, and there are no previous reports of dominant cleft palate with these associated features. We believe that this represents a previously unreported syndrome, which needs to be considered when assessing recurrence risk for cleft palate.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
12/399. Advanced carpal collapse associated with congenital hypoplastic thumb.We present the long term sequelae of two patients with congenital hypoplastic thumbs. Neither had surgical correction in childhood, but maintained adequate function in their hands. However, both have developed progressive carpal collapse in adulthood, leading to painful wrists.- - - - - - - - - - ranking = 0.25keywords = hand (Clic here for more details about this article) |
13/399. The Camera-Marugo-Cohen syndrome: report of two new patients.This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.- - - - - - - - - - ranking = 0.25keywords = hand (Clic here for more details about this article) |
14/399. A case of mirror hand deformity with a 17-year postoperative follow up. Case report.We present a case of a boy with a congenital upper-extremity malformation, including aplasia of the radius, double ulna, aplasia of the thumb, and polydactyly with a 17-year postoperative follow-up. The whole extremity, particularly the upper arm and shoulder girdle were hypoplastic. There was restriction of movement of the elbow and a flexion contracture of the wrist. At an age of 2 years he had three hypoplastic fingers resected and pollicisation of the third accessory finger. The thenar was reconstructed by interosseous muscle transfers and the flexion contracture corrected by a flexor tendon transfer. Preoperative electromyographic studies showed that he had two ulnar nerves with cross-innervation of the median nerve. Further improvements (including tendon transfer of the flexor carpi radialis) were made 16 years after the primary operation. At the age of 18 years the patient has satisfactory function of his left hand.- - - - - - - - - - ranking = 491.66277154853keywords = hand deformity, hand, deformity (Clic here for more details about this article) |
15/399. Combined third and fourth toe transplantation.Multiple toe transplantation has been established as an effective technique for restoring prehensile ability in the metacarpal hand. The combined third and fourth toe transplant is a new toe transplant that has been developed for bilateral metacarpal hand reconstruction. Since 1991, the combined third and fourth toe transplant was added to the armamentarium of toe transplants for metacarpal hands, although its role in metacarpal hand reconstruction has not been described previously. This article introduces the indications for combined third and fourth toe transplant, outlines relevant vascular anatomy, and discusses technical considerations pertaining to toe harvest and transplantation.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
16/399. 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.- - - - - - - - - - ranking = 0.75keywords = hand (Clic here for more details about this article) |
17/399. The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
18/399. 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.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
19/399. Prenatal sonographic diagnosis of Holt-Oram syndrome.Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography.- - - - - - - - - - ranking = 0.5keywords = hand (Clic here for more details about this article) |
20/399. Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome.We report on a radiographically examined fetus (gestational age 13 weeks) with Crouzon syndrome caused by a mutation in the gene encoding the fibroblast growth factor 2 (FGFR2). We found an approximately 2-week delay in vertebral body and hand ossification with normal vertebral arch ossification, suggesting that regionally delayed skeletal maturation might be a manifestation of FGFR2 mutation syndromes. The findings support other studies indicating that different signaling pathways control skeletal maturation in vertebral bodies and vertebral arches.- - - - - - - - - - ranking = 1.25keywords = hand (Clic here for more details about this article) |
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