Dr. Rinita Toppo, T18566, Dr. Rajiv Kumar Gupta, Dr. Kumari Chandan Murmu
INTRODUCTION :Fraser syndrome is a rare autosomal recessive (AR) disorder with cryptophthalmos, laryngeal, genitourinary ,craniofacial and musculoskeletal anomalies, orofacial clefting ,and mental retardation.
CASE REPORT:2 siblings boy 5years and girl 2 years presented with anophthalmos,incomplete cryptophthalmos, ,absent eyebrow and eye lashes ,tongue of hair from temple to brow,wide nasal bridge, hypertelorism and microtia.Others normal.Karyotyping not done due to financial concerns and the diagnosis was clinical.
DISCUSSION: The diagnostic criteria by Thomas et al (1986) includes major criteria – cryptophthalmos, syndactyly, sibling with cryptophthalmos and abnormal genitalia and minor criteria – congenital malformations of nose, ear,larynx,skeleton,umbilical hernia, renal ageneis and mental retardation.Presence of 2 major, 1 minor or 1 major, 4 minor needed for diagnosis.Both siblings had fulfilled the major and minor criteria.