Case Report

The male patient (fig. 1A-F) is the sixth child of a 28-year-old woman G7P6A1 and her 29-year-old nonconsanguineous husband. Minor anomalies were not detectable in the parents. The pregnancy was uncomplicated with no history of exposure to teratogens. The mother had a history of threatened miscarriage at 4 months of pregnancy. Delivery was normal at term and birthweight was 2,450 g (<3rd percentile); length was not recorded. A cleft lip/palate was detected. Clinical examination at age 19 months showed: weight 7,600 g (<3rd percentile), length 71 cm (<3rd percentile), and OFC 43 cm (>2nd percentile). A reevaluation at the age of 22 years and 8 months revealed: weight 25 kg (<3rd percentile), length 130.5 cm (<3rd percentile), and OFC 48 cm (<3rd percentile). He presented with microcephaly, a sloping forehead, synophrys, arched eyebrows, a flat nose, prominent ears, large conchae, hypoplastic tragus and lobules, left cleft lip/palate, a large mouth, hypodontia, large left central maxillary incisor, aberrant crown morphology, short hands, mild camptodactyly (mainly of 5th finger), bilateral hypoplasia of the distal phalanges of fingers 2 and 3, with agenesis/hypoplasia of the nails (fig. 2A, B), halluces valgi, a wide gap between toes 1 and 2, proximal syndactyly between toes 2 and 3, a short 5th toe (fig. 3A, B), and bilateral hip dislocation. Neuropsychological development and language acquisition were delayed. X-rays of the hands (fig. 2C, D) showed gross and misshapen proximal phalanges of fingers 2-3, radial clinodactyly of finger 2, hypoplastic distal phalanges of fingers 2-3, abnormal ‘bird-like beak’ modeling of the right distal phalanx of finger 2, and a small bony fragment distal to the phalanx of finger 3 as well as a dislocation of the metacarpal phalangeal joint of both thumbs. In both feet, the median and distal phalanges of toes 3-5 are hypoplastic with halluces valgi (fig. ​(fig.3C).3C). X-rays of the vertebral column revealed a narrow intervertebral disc space at T10-L5, thoracolumbar scoliosis, and sacral hemivertebra. MRI showed a left choanal atresia; the central nervous system was normal. Audiological evaluation performed at the age of 21 years revealed a bilateral mixed hearing loss. The results of routine laboratory blood tests were normal.

A-F The patient at age 9 (A-C) and 19 years (D-F). A small skull, sloping forehead, synophrys, arched eyebrows, a flat nose, prominent ears, large conchae, hypoplastic tragus and lobules, left cleft lip/palate, and a large mouth are shown.

A-D The hands of the patient showing mild camptodactyly (mainly of 5th finger), short hands, bilateral hypoplasia of the distal phalanges of fingers 2 and 3, with agenesis/hypoplasia of the nails (A, B). X-rays of the hands show gross and misshapen proximal phalanges of fingers 2 and 3, radial clinodactyly of finger 2, hypoplastic distal phalanges of fingers 2 and 3, abnormal ‘bird-like beak’ modeling of the right distal phalanx of finger 2 as well as a small bony fragment distal to the phalanx of finger 3, and a dislocation of the metacarpal phalangeal joints of both thumbs (C, D).

A-C The feet of the patient showing a wide gap between toes 1 and 2, proximal syndactyly between toes 2 and 3, a short 5th toe (A, B), and marked hypoplasia of median and distal phalanges of toes 3 and 5 with bilateral halluces valgi (C).