We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.

A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.

A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic.

Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones. The case is, therefore, a va...

Hypoparathyroidism-Retardation-Dysmorphism (HRD) syndrome, also known as Sanjad Sakati Syndrome (SSS), is a rare autosomal recessive genetic condition seen in offspring of consanguineous parents of Middle Eastern origin. HRD consists of hypoparathyroidism leading to hypocalcemia and hyperphosphatemia, growth retardation, and characteristic dysmorphic features. This case presents a Saudi baby gi...

The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism. Here we report a new case of ICF syndrome who died of rubella pneumonitis. A six year-old-girl who was the first child of consanguineous parents was admitt...

A protein kinase domain, a Rhodanase-like and the Tre-2/Bub2/Cdc16 (TBC) domain are all encoded by TBCK gene. By modulating mammalian target of rapamycin (mTOR) signaling pathway, is hypothesized to play role in actin organization, cell growth, proliferation. Has organization cytoskeleton.

CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, aplasia, skin atrophy GENITAL DISORDERS genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum male genitalia, modifications not including ambiguity cryptorchidism JOINT DISORDERS joint, mo...