Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes

Abstract

This study reports on two individuals with Temple-Baraitser syndrome, manifesting typical hallux and pollex findings, global developmental delay, and seizures. In the five previous cases identified to date, consistent craniofacial and osseous characteristics have been observed. The children described herein exhibit minor differences within this phenotype and are older, highlighting the phenotypic variability and natural history of the clinical and radiographic findings.

Fig. 1

Patient 1 (a) at 5 years of age and (b) at 9 years of age. Note the myopathic-appearing face, low anterior hairline, wide nasal bridge, thick alae nasi, everted and thick vermilion of both the upper and the lower lips. (c) Left hand, (d) left foot; the thumb is bulbous distally and the great toe is elongated; there is near absence of the nail on the first rays only, and the other digits and nails are normal.

Fig. 2

Radiographs of patient 1: (a) left hand at 5 years, (b) left hand at 9 years. Note the abnormal distal phalange of the thumb that is missing the proximal ossification center. (c) Left foot at 5 years, (d) left foot at 9 years; the distal phalange of the great toe has a wide and rounded appearance and lacks the proximal epiphysis.

Fig. 3

Patient 2 (a) at 14 years of age. Note the myopathic-appearing face, wide and depressed nasal bridge, anteverted nares with thick alae nasi, everted thick vermilion of the lower lip, and long philtrum. (b) Left hand: there is a smaller dystrophic nail on a broad thumb, and the remaining fingernails are hypoplastic. (c) Right foot: note the elongated hallux and near to true absence of toenails.

Fig. 4

Radiographs of patient 2: (a) left hand at 12 years, (b) left hand at 14 years. Note the discontinuity in the distal phalange of the thumb and absence of the proximal ossification center. The distal phalanges of the other digits are hypoplastic. (c) Right foot at 14 years. The distal phalange of the great toe appears wider and rounder and is missing the proximal epiphysis.