Rhizomelic Chondrodysplasia Punctata: A Case Report
Case Report :

A full term female neonate was born of 3rd degree consanguineous marriage by spontaneous vaginal delivery to a 25 year old third gravida mother. Baby was admitted at birth with complaints of respiratory distress and abnormal extremities.

Mother was diagnosed hypothyroidism three years back and was receiving L-Thyroxine since then .Mother had spontaneous abortion 3 years back in first trimester and an ectopic pregnancy 2 years back, for which exploratory laparotomy was done. There was no history of teratogen exposure particularly warfarin therapy or alcohol use during pregnancy. Prenatal ultrasonographic assessments reported proximal limb shortening.

On Clinical examination baby weight was 3000 gms (15th - 50th percentile), Head circumference 36 cm (85th – 97th percentile), Length 48 cm (15th - 50th percentile). Baby had proximal symmetrical shortening of the humerus and to a lesser degree the femur with flexion contractures in all extremities, midfacial hypoplasia with a depressed nasal bridge and anteverted nares with a short neck with nuchal fullness and ichthyotic skin changes.(Figure 1)
Ophthalmological examination showed cataract and megalocornea (Figure 2) in both eyes....