Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

A case of rhombencephalosynapsis, a very rare disorder characterized by agenesis or hypogenesis of the cerebellar vermis and fusion of the cerebellar hemispheres, is reported with magnetic resonance imaging features. Radiographs showed anomalies in both hands; namely phalangeal hypoplasia and occult polydactyly in the right hand and syndactyly in the left, previously unreported in association w...

A 12-year-old boy with the Pfeiffer syndrome presented with nonpalpable testes. Medical history was significant for multiple operations to correct bicoronal craniosynostosis, hypertelorism and syndactyly of the hands. Physical examination revealed no palpable gonads in the scrotum or inguinal canals. However, virilization and development of secondary sex characteristics had begun. Plasma testos...

Apert syndrome is a congenital type 1 acrocephalosyndactyly characterized by craniosynostosis, dysmorphic facial features and symmetrical syndactyly. There premature fusion of cranial sutures which leads to restriction intracranial orbital space expansion giving characteristic appearance. We are reporting two cases different age groups from ophthalmic point view, with sets ocular manifestation....

A spectrum of limb abnormalities ranging from adactyly, syndactyly, acrosyndactyly to nail hypoplasia was encountered in mouse embryos subjected to amniotic sac puncture at the corresponding gestational stage when human chorionic villus sampling (cvs) would normally be performed clinically. Previous skeletal studies revealed that, apart from the occasional incidence of fusion of 2 distal phalan...

Fraser syndrome is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, genitourinary mal-formations and mental retardation. We report a family with affected child where the pregnant woman was referred at 24 weeks of gestation for termination of pregnancy. The aborted fetus showed typical findings suggestive of Fraser syndrome.

A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenot...