Agha Shabbir Ali, Muhammad Haroon Hamid.
Catel - Schwartz - Jampell syndrome.
Pak Paed J Jan ;27(2):95-8.

Meerage (7 Years) and Shahzad (5 years) two siblings from consanguineously married parents were referred to the Children`s Hospital outpatient clinic because of increasing difficulty in walking and different look of facial expression. Onset of clinical problem and subsequent progress of disease was more or less similar in both siblings. They were born following a full term uneventful pregnancy. Prenatal and postnatal periods were clinically unremarkable. They remained well in early infancy. Mother started appreciating a degree of stiffness in their bodies towards the end of the first year. This gradually but progressively kept on increasing. Progress in motor development was delayed following the onset of body stiffness They could walk with support at the end of 2nd year, although subsequently free walking was achieved but always remained restricted. Their facial muscles also developed gradual tightening thus oral cavity and palpebral fissures became narrowed. Both had no history of convulsions. Contined…

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com