title: Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?
abstract: We report on two severely mentally retarded male children of consanguineous parents who seem to be affected by an identical syndrome. The main physical anomalies are typical facial stigmata with a broad nasal bridge, a bulbous nose, upward slanting palpebral fissures, microretrognathia, low hair line, and large ears with an incompletely developed upper helix. In addition, both brothers had hypospadias type II, limb contractures, and delayed bone age. One child had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus. Chromosome analysis showed a normal karyotype in both. The striking similarity between the brothers, the dissimilarity to other known syndromes, and the parental consanguinity argue in favour of a new, hitherto undescribed, possibly autosomal recessive syndrome.
authors.affiliation: Institute of Human Genetics, Freiburg, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: E
authors.initials: E
authors.lastname: Zimmermann
authors.forename: B
authors.initials: B
authors.lastname: Zimmerhackl
authors.forename: C
authors.initials: C
authors.lastname: Harnasch
authors.forename: C
authors.initials: C
authors.lastname: Jung
authors.forename: E
authors.initials: E
authors.lastname: Back
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003286:Contracture / Q000151:congenital* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome