Cousin-Walbaum-Cegarra Syndrome

A syndrome of familial pelvic and scapular dysplasia, anomalies of the epiphyses, dwarfism, and dysmorphism.

Pelviscapular Dysplasia.

Presented in a North African brother and his sister whose parents were healthy first cousins. Most likely autosomal recessive inheritance. A total of three patients were reported.

Congenital dwarfism (rhizomelic micromelia), facial dysmorphism (macrocephaly, hypertelorism, low-set ears), short neck, agenesis of the scapular wings, and hypoplasia of the iliac and acetabular wings occurred in both patients. A high risk for hip dislocation is associated with the disorder. Moderate developmental delay, a cutaneous cervical diverticulum, and auricular anomalies were noted.

Anesthesia in this disorder has not been described. Expect difficult airway management depending on the degree of dysmorphism. Careful intraoperative positioning is needed to avoid dislocations of the hips. Mental retardation may affect patient cooperation. Sedative and/or anxiolytic premedication and/or the presence of the primary caregiver during induction of anesthesia may be helpful.

Kosenow Syndrome (Scapuloiliac Dysplasia): Initially described in two unrelated girls presenting with marked hypoplasia of the scapulae, clavicles, and pelvis. Associated malformations included spina bifida and anomalies of the eyes (e.g., ectopic pupils) and ribs. It appears that the father of one of the girls had the same condition. Inheritance most likely is autosomal dominant.