Introduction Poland sequence refers to congenital unilateral absence of the sternal costal portion of the pectoralis major muscle and ipsilateral upper limb anomalies. There is no known genetic etiology for Poland sequence. The pathogenesis of this disorder is suggested to…
Introduction Neu-Laxova syndrome (NLS) is an autosomal recessive, lethal disorder. The syndrome was first described in 1971 by Neu et al. who reported three siblings who were either stillborn or died shortly after birth with microcephaly and multiple congenital anomalies. In…
Introduction Klippel-Trénaunay-Weber syndrome (KTWS) is characterized by a triad of cutaneous hemangiomas, hemihypertrophy, and vascular abnormalities. This triad of anomalies was first described by Klippel and Trénaunay in 1900. Parkes-Weber described an additional case 18 years later that had the…
Introduction CHARGE ( c oloboma, h eart disease, choanal a tresia, r etardation, g enital hypoplasia, and e ar anomalies) syndrome is an autosomal dominant disorder that was first described as a recognizable pattern of congenital malformations by Hall in…