Etiology of short stature in children.

Objective: To determine the causes of short stature in children with special emphasis on growth hormone deficiency.

Study Design: Case series.

Place And Duration Of Study: Department of Paediatrics, Military Hospital, Rawalpindi and Combined Military Hospital, Multan from September 2004 to January 2007.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Autosomal-recessive inheritance is believed to be relatively common in mental retardation (MR), although only four genes for nonsyndromic autosomal-recessive mental retardation (ARMR) have been reported. In this study, we ascertained a consanguineous Pakistani family with ARMR in four living individuals from three branches of the family, plus an additional affected individual later identified as a phenocopy. Retinitis pigmentosa was present in affected individuals, but no other features suggestive of a syndromic form of MR were found.