| Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly were observed in a 4-year-old female with an otherwise normal phenotype. Electromyographic and nerve conduction studies were normal. The Doppler evaluation was consistent with a 50% reduction in the blood supply from the femoral artery, suggesting vascular disruption as the pathogenic mechanism. Our observations support the hypothesis that a lower extremity counterpart of the poland syndrome does exist and that the extent of limb involvement is dependent on the level of vascular disruption. ( info) |
| The sturge-weber syndrome consists of unilateral port-wine haemangioma of the face which may be associated with an ipsilateral intracranial haemangioma and choroidal angioma. The common derivation of the meningeal, choroidal and facial vessels may explain a congenital malformation of all three areas. I report the case of a child with typical sturge-weber syndrome who had a previously undescribed association with bilateral congenital syndactyly. ( info) |
3/406. Mutchinick syndrome in a Japanese girl. We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe. ( info) |
4/406. New type of synpolydactyly of hands and feet in two unrelated males. An 18-year-old Japanese boy and a 10-year-old Chinese boy both had nearly complete cutaneous syndactyly of the fingers and toes, six diphalangeal fingers on each hand, six toes on each foot (except the right foot of patient 2), and short, deformed, and on occasion partially fused metacarpals and metatarsals. Neither had other malformations and were of normal intelligence. The accessory toes in patient 1 were mesoaxial, each situated between the hallux and the third toe, whereas those in patient 2 were postaxial. In view of these findings, the disorder in 2 individuals is likely to represent a hitherto undescribed type of nonsyndromic synpolydactyly. ( info) |
5/406. Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation. A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder. ( info) |
6/406. The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. Two children are described with the combination of aplasia cutis congenita (ACC) and transverse limb defects known as Adams-Oliver syndrome. Whereas in the first child the typical features of ACC, syndactyly and transverse nail dystrophy were only mildly expressed and associated defects of the central nervous system and cardiac malformations were absent, the second child suffered from a very severe expression of the syndrome, with a combination of ACC, syndactyly, cutis marmorata telangiectatica congenita and multiple cardiac and central nervous system malformations which resulted in fatal central respiratory insufficiency. ( info) |
7/406. Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation. We report two brothers from nonconsanguineous parents who share hypotonia, ptosis, high arched palate, camptodactyly, fifth fingers clinodactyly, 2/3 toes syndactyly and psychomotor retardation. Differential diagnosis, such as the Ohdo syndrome, the Morillo-Cucci syndrome, the Marden-Walker-like syndrome, and the Frydman syndrome and discussed. ( info) |
8/406. anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3. We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features. ( info) |
9/406. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus. Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described. ( info) |
10/406. Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with fraser syndrome. We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of fraser syndrome after abortion. ( info) |