Robinow Syndrome

A form of dwarfism characterized by short limbs with abnormal morphogenesis of the face and external genitalia.

Recessive form: Costovertebral Segmentation Defect with Mesomelia (COVESDEM) Syndrome.

Dominant form: Robinow Dwarfism; Fetal Face Syndrome; Acral Dysostosis with Facial and Genital Abnormalities Syndrome.

Recessive forms caused by mutation in the ROR2 gene located on 9q22 (allelic to brachydactyly type B); autosomal dominant forms exist.

Characteristic facial features include macrocephaly; dolichocephaly; bulging forehead; micrognathia; hypertelorism; wide palpebral fissures; S-shaped lower eyelids; down-slanting palpebral fissures; short, upturned nose with anteverted nostrils and long philtrum; V-shaped or tented upper lip; triangular mouth; crowded teeth; gingival enlargement; and ankyloglossia. They are combined with mesomelic shortening of the forearm and hypoplastic genitalia.

Features can also involve head and neck (large anterior fontanel, posteriorly rotated ears, absent uvula, crowded teeth, prominent eyes), heart (right ventricular outlet obstruction), genitourinary (renal duplication, hydronephrosis, small penis, small clitoris, small labia majora), gastrointestinal (GI) (abnormal umbilicus, umbilical hernia cryptorchism), and skeleton (scoliosis, ribcage, hand and foot abnormalities, small stature, developmental delay).

The main discriminating feature is the occurrence of multiple rib and vertebral anomalies in the recessive form.

Evaluate cardiac function (clinical, ECG, echocardiography, radionuclide imaging, and cardiac catheterization if necessary); renal function (clinical, echography, laboratory); airway (clinical, radiographs); and respiratory function if scoliosis is important (clinical, chest radiographs, pulmonary function test, arterial blood gas analysis).

Direct laryngoscopy and tracheal intubation can be difficult. Spontaneous respiration must be maintained until the airway is secured and ventilation confirmed. Tracheal intubation can be difficult. A laryngeal mask and fiberoptic equipment for tracheal intubation may be required. Perioperative cardiac and respiratory monitoring should be considered. Careful intraoperative positioning is needed because of skeletal anomalies. Regional anesthesia is not contraindicated however, the presence of vertebral anomalies should be considered.

Fluid regimen and anesthetic drugs should be adapted to renal function. Muscle relaxants should be avoided until airway is secured and ventilation confirmed.