Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported.  Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness.  Recessive abnormal trait probably due to new mutation was the c...

ankyloglossia (tongue-tie) is a congenital anomaly with a prevalence of 4-5% and characterized by an abnormally short lingual frenulum. for unknown reasons the abnormality seems to be more common in males. the pathogenesis of ankyloglossia is not known. the authors report a family with isolated ankyloglossia inherited as an autosomal dominant or recessive trait. the identification of the defect...

Megacystis-microcolon-intestinal hypoperistalsis syndrome is an uncommon condition, possibly inherited as an autosomal recessive trait. This report describes an affected sib pair with intrauterine death of one of the sibs.

Harlequin Ichthyosis is a dermal disorder that always lead to an early death after birth. Although the clinical characteristics of this disorder has been described perfectly but the molecular basis of which isn’t clear well. Harlequin fetus is an Autosomal recessive trait and prenatal diagnosis is possible by embryo skin biopsy after fetoscopy. This case was a male newborn who died 4 days after...

Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of ...

PURPOSE Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been as...

Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns. Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent. It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative tre...

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subu...