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An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.

Pfeiffer-type cardiocranial syndrome (MIM 218450) was first delineated in 1987; several further patients have been reported confirming this as a distinct nosological entity. The aetiology of this condition remains unknown although an autosomal recessive pattern of inheritance has been suggested following the description of sib pairs. A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. Telomere studies on blood and skin samples identified a de novo unbalanced rearrangement resulting in partial monosomy for 1p36.1 to pter and partial trisomy for 17q25.1 to qter. This case provides the first insight into the possible aetiology of this condition.

We present a 1 month-old infant with Robinow syndrome and large inguinal hernia, undescended testes and micropenis mimicking penile agenesis. Genital anomalies are common in Robinow syndrome. The ambiguous genitalia appearance may lead to confusion in gender assignment.