An Unusual Combination of Primordial Dwarfism with Isolated Cleft Palate

Primordial dwarfism is a rare anomaly with over 200 sub-types, which results in a relatively small body size in all stages of life, beginning at the intrauterine period. The life expectancy for these patients is around 30 years but very few survive their intra-uterine phase. Other features associated with primary dwarfism reported till date includes pigmentation of skin, cleft lip and palate, and semilobar holoprosencephaly. We report an unusual combination of primordial dwarfism associated with isolated cleft palate.