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

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Nivelon-Mabille Syndrome.

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Two cases were reported worldwide by A. Nivelon and colleagues in 1992. Autosomal recessive inheritance has been suggested. The first sibling had normal female internal and external genitalia, whereas the karyotype was 46,XY. Pregnancy with the second child was terminated after antenatal diagnosis. The findings were similar except for a 46,XX karyotype.

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Severe growth (already antenatal in origin) and mental retardation are present. Clinical features involve the head and central nervous system (thickened skull, microcephaly, hypoplasia/ agenesis of the cerebellar vermis, large ears, and everted upper lip), the skeleton (generalized chondrodysplasia, micromelia, short metacarpals and phalanges, which are widened in the midportion and distally, short iliac bones, broadened epiphyses, trapezoid vertebral bodies), and the eyes (deep set eyes, strabismus, miosis, short palpebral fissures, hypoplasia of the iris, coloboma of the optic disc, abnormal retinal vessels). Other features include pseudohermaphroditism and narrow chest with 11 pairs of ribs.

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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. The patient may have seizures, and pharmacologic treatment may interfere with the metabolism of some anesthetic drugs.

Nivelon A, Nivelon JL, Mabille JP, et al: New autosomal recessive chondrodysplasia-pseudohermaphroditism syndrome. Clin Dysmorphol 1:221, 1992.  [PubMed: 1342874]

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