1/189. Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes.We report on a female infant with partial trisomy 9p (pter-->p13) and partial trisomy 14q (pter-->q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
2/189. New syndromic entity of situs inversus totalis.A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.- - - - - - - - - - ranking = 0.22222222222222keywords = q (Clic here for more details about this article) |
3/189. X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.Of the gene-rich regions of the human genome, Xq28 is the most densely mapped. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular studies reported here add an additional syndromic form of X-linked mental retardation (XLMR) to this region. The condition comprises short stature, small hands and feet, seizures, cleft palate, and glaucoma. One affected male died at age 19 years in status epilepticus, but others have survived to old age. Carrier females do not have somatic anomalies or mental impairment. The gene is localized to the terminal 8 Mb of Xq28 with markers distal to DXS8011 showing linkage to the disorder with a lod score of 2.11 at zero recombination.- - - - - - - - - - ranking = 0.66666666666667keywords = q (Clic here for more details about this article) |
4/189. Symptomatic talonavicular coalition.Talonavicular coalition is reported as an asymptomatic congenital anomaly of the foot that is noticed incidentally on radiographs of the foot, and is often associated with symphalangism, clinodactyly, ball-and-socket ankle joint, a great toe that is shorter than the second toe, and an autosomal dominant inheritance pattern. We describe here three patients with five involved feet. All three patients had chronic foot pain not secondary to trauma, and all five feet required treatment to alleviate the pain.- - - - - - - - - - ranking = 0.11111111111111keywords = q (Clic here for more details about this article) |
5/189. The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.We report on a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome. The presence of constriction rings makes the limb anomalies in this case similar to those seen in the amniotic band disruption sequence. Vascular disruption--with or without secondary amniotic rupture--may be responsible for the observed anomalies. Therefore we believe that the present observation adds further evidence for the hypothesis that the Adams-Oliver syndrome is a vascular disruption sequence.- - - - - - - - - - ranking = 0.22222222222222keywords = q (Clic here for more details about this article) |
6/189. 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 = 0.11111111111111keywords = q (Clic here for more details about this article) |
7/189. holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.- - - - - - - - - - ranking = 1.1111111111111keywords = q (Clic here for more details about this article) |
8/189. Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome.The prenatal ultrasound identification of a cleft lip and palate, equinovarus feet with severe lower limb malposition and genital abnormalities led to the prenatal diagnosis of popliteal pterygium syndrome in a pregnant mother suspected to have a mild expression of this autosomal dominant condition. However, in sporadic cases with lack of a family history for this rare syndrome, prenatal diagnosis may be difficult to ascertain.- - - - - - - - - - ranking = 0.11111111111111keywords = q (Clic here for more details about this article) |
9/189. Pedal macrodactyly: coverage of a large defect with a rectus abdominus free flap.The authors report a case of a unique reconstructive approach for an isolated macrodactyly of the lower extremity in an otherwise healthy African male. Surgical treatment included excision and local resection of the affected hypertrophied skin, soft tissue, and bone. A rectus abdominis free-tissue transfer and split-thickness skin graft were used for coverage of the defect. The foot healed without complication, and at 2-year follow-up, the patient had an aesthetically pleasing and fully functional result.- - - - - - - - - - ranking = 0.11111111111111keywords = q (Clic here for more details about this article) |
10/189. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence of middle phalanges of some toes. He was diagnosed as having TPTPS. His daughter was more severely affected, having complete syndactyly of five-fingered hands in rosebud fashion (Haas-type syndactyly), hypoplastic tibiae, absent patellae, thick and displaced fibulae, preaxial polysyndactyly of triphalangeal toes, and cutaneous syndactyly of some toes, the manifestations being consistent with THPTTS. Having two different syndromes in the same family suggests that they are actually the same disorder. A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2). In addition, all loci for TPTPS, THPTTS, and PPD2 (and/or PPD3) have been assigned to chromosome band 7q36. These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). We propose to call the condition "tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome." copyright 2000 Wiley-Liss, Inc.- - - - - - - - - - ranking = 0.11111111111111keywords = q (Clic here for more details about this article) |
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