A syndrome of familial pelvic and scapular dysplasia,
anomalies of the epiphyses, dwarfism, and dysmorphism.
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.
Cousin J, Walbaum R, Cegarra P, et al: Familial pelvi-scapulary dysplasia
with anomalies of the epiphyses, dwarfism and dysmorphy: A new syndrome?
Arch Fr Pediatr
Elliott AM, Roeder ER, Witt DR, et al: Scapuloiliac dysostosis (Kosenow
syndrome, pelvis-shoulder dysplasia) spectrum: Three additional cases. Am J Med Genet
Hauser SE, Chemke JM, Bankier A: Pelvis-shoulder dysplasia. Pediatr Radiol