The CHARGE association We read with interest the proposal of a new autosomal recessive syndrome by Hurst etal Med Genet 1989;26:407-9) based on the description of two sibs with ASD, VSD, developmental delay, poor growth, microcephaly, low set, posteriorly rotated ears, and other dysmorphic features. The brother had choanal stenosis and the sister was also suspected to have choanal stenosis, but...

fanconi syndrome was first described in 1927 by g.fanconi. fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...

objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...

Helmut Seckel described Seckel syndrome (SS) which is an autosomal recessive disorder and characterized by cleft lip and palate, club foot, scoliosis, gastrointestinal malformations, and multiple skeletal malformations.[1,2] Other accompanying anomalies are severe microcephaly, craniofacial dysmorphism with characteristic bird headed appearance, prominent beaked triangular nose, micrognathia, v...

BACKGROUND Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown. CASE We present here the case of a Lebanese girl with Dubowitz...