Chondrodysplasia-Pseudohermaphroditism Syndrome

At a glance

A severe form of congenital dwarfism, generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, iris hypoplasia, and coloboma of the optic disc.

Synonym

Nivelon-Mabille Syndrome.

Incidence

Two siblings have been reported by the French geneticist A. Nivelon and colleagues in 1992.

Genetic inheritance

Autosomal recessive inheritance has been suggested. The first sibling had normal female internal and external genitalia; however, the karyotype was 46,XY. The pregnancy with the second child was terminated after antenatal diagnosis of similar clinical findings, but with a 46,XX karyotype.

Clinical aspects

Severe intrauterine growth retardation, postnatal short stature, and moderate mental delay are present. Head and central nervous system anomalies consist of thickened skull, microcephaly, hypoplasia/agenesis of the cerebellar vermis, mild ventricular dilatation, large ears, and everted upper lip. The eyes are deep set with strabismus, short, upslanted palpebral fissures, hypoplastic and hypopigmented iris, fixed miosis, coloboma of the optic disc, and abnormal retinal vessels. Skeletal anomalies include generalized chondrodysplasia, micromelia, short metacarpals and phalanges, which are widened in the midportion and distally, short iliac bones, broadened epiphyses, and trapezoid vertebral bodies. Other features include pseudohermaphroditism and a narrow, bell-shaped chest with 11 pairs of ribs.

Precautions before anesthesia

Check for signs of difficult airway management, although cranial dysmorphism seems to be mild. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Anesthesia in this condition has not been described. The features of the disease suggest that restrictive lung disease may occur as a result of chest malformations. Intraoperative positioning may be difficult and require careful padding to avoid pressure sores and nerve injury. Peripheral vascular access might be challenging and ultrasound guidance may be helpful.

Pharmacological implications

None specific to this disorder.

Reference