1/5. Two sibs with Malpuech syndrome.We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/5. Malpuech syndrome: three patients and a review.We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. consanguinity in two families suggests autosomal recessive inheritance. growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/5. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies.We report a 6-month-old boy, born of consanguineous (first-cousin) parents (F = 1/16) presenting microbrachycephaly, wide forehead, marked hypertelorism, broad nose with a midline groove with a bilateral small "blind dimple" in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and halluces. This association of anomalies suggests the diagnosis of a "new" type of acro-fronto-facio-nasal dysostosis. Normal chromosomes, parental consanguinity, and familial occurrence suggest autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/5. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/5. Multiple lentigines syndrome in a Nigerian family.Three cases of the multiple lentigines syndrome are reported in a Nigerian family, involving a father and two of his children. The major abnormalities in this syndrome include: multiple lentigines, cardiac defects, genitourinary malformations, neurological deficits, growth retardation, cephalofacial dysmorphism and a family history consistent with an autosomal dominant mode of inheritance. We hereby report these cases in whom the main features are multiple lentigines, ocular hypertelorism, electrocardiographic defects and a pattern consistent with an autosomal dominant mode of inheritance.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |