1/8. prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus.We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and radiographic features are discussed. The patient had complete situs inversus and hypospadias. The former was reported in one other case of type III and the later has not been previously reported in this entity.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
2/8. Clinical aspects, diagnosis, and treatment of the Kaufman syndrome (hydrocolpos, hypospadias, polydactyly).Three girls with the Kaufmann syndrome are reported. In these children the hydrocolpos was not caused by a vaginal atresia but by a stenosis of the vaginal introitus combined with female hypospadias. These children suffered from additional micrognathia. The parents of two of the children suffered from additional micrognathia. The parents of two of the children were related to each other. No such family history could be discovered in the third child. It is possible that this syndrome is autosomal recessive and sexlinked. As the associated malformations may endanger life and therefore necessitate immediate operation, the hydrocolpos should be treated at first conservatively. Later on, corrective operations should be performed.- - - - - - - - - - ranking = 0.66666666666667keywords = polydactyly (Clic here for more details about this article) |
3/8. Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
4/8. Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?We describe a patient with deafness, normal intellect and a unique phenotype characterized by a rigid mask-like face, narrow, upslanting palpebral fissures, flat malar bones, thick lower lip, malformed auricles, preaxial polydactyly with triphalangeal thumbs, syn-ectrodactyly of toes and first degree hypospadias.- - - - - - - - - - ranking = 0.83333333333333keywords = polydactyly (Clic here for more details about this article) |
5/8. Autosomal dominant transmission of the pallister-hall syndrome.We describe a 9-year-old boy and his 34-year-old father with the pallister-hall syndrome. The proband had precocious puberty, imperforate anus, postaxial polydactyly, hypospadias, a hypothalamic mass, and a displaced pituitary gland. The father had polydactyly, a hypothalamic mass, and a flattened pituitary gland. We conclude that the most likely cause of the pallister-hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.- - - - - - - - - - ranking = 0.33333333333333keywords = polydactyly (Clic here for more details about this article) |
6/8. Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.We report on 3 individuals, a man and his son and daughter, who were born with preaxial deficiencies of the hands and feet and postaxial polydactyly of the hands. Both males also had glandular hypospadias. Certain of these findings resemble those found in the hand-foot-genital syndrome; however, we conclude that this family has a hitherto unreported autosomal dominant condition. Production by a single gene defect of preaxial deficiencies and postaxial polydactyly in the same individual is of note.- - - - - - - - - - ranking = 1keywords = polydactyly (Clic here for more details about this article) |
7/8. Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor.We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed.- - - - - - - - - - ranking = 0.16666666666667keywords = polydactyly (Clic here for more details about this article) |
8/8. Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of sjogren-larsson syndrome. The nosology of 'bird-headed' dwarfism is briefly discussed.- - - - - - - - - - ranking = 0.83333333333333keywords = polydactyly (Clic here for more details about this article) |