Otoonychoperoneal Syndrome

Clinical Features

Leiba et al. (1975) reported a 14-year-old boy, born to consanguineous parents, who had facial dysmorphism and low, poorly developed and posteriorly rotated auricles, broad toes, partial aplasia of the nails, bilateral deformity of the lateral part of the clavicles and acromions, enlargement of the phallus with hypospadias, and other minor skeletal abnormalities. He was mildly mentally retarded.

Pfeiffer (1982) described 2 brothers with peculiar dysplasia of the ears, partial aplasia of the nails, and aplasia or hypoplasia of the fibulae. Motor development was severely impeded by contractures of the hip, knee, and ankle joints. Minor craniofacial abnormalities and immobility of some interphalangeal joints were also noted.

Devriendt et al. (1998) reported 2 sibs with abnormal external ears, dysmorphic facies, nail hypoplasia, bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. Devriendt et al. (1998) considered these sibs to have had the same condition as those described by Pfeiffer (1982).

Bessieres-Grattagliano et al. (2004) examined a 17-week-old fetus of nonconsanguineous parents who had dysmorphic facial features including low-set ears with prominent antitragus and unfolded helices, partial nail aplasia and hypoplasia, broadly spaced toes with enlargement of the tips, and bilateral fusion between the distal third of the clavicle and the spine of the scapula and bilateral aplasia of the fibulae. In addition, elbow pterygia, knee contractures, severe talipes equinovarus, other skeletal malformations, and renal anomalies were present. Bessieres-Grattagliano et al. (2004) noted that hypoplastic ears and nails and shoulder anomalies with straight claviculae and/or acromioclavicular fusion appeared to be the most consistent features of the syndrome and suggested renaming the entity otoonychoacromioclavicular syndrome.

Inheritance

Devriendt et al. (1998) suggested autosomal recessive inheritance of the otoonychoperoneal syndrome.