Acrodysostosis in two generations: an autosomal dominant syndrome

Abstract

Acrodysostosis is a rare syndrome characterized by growth retardation, peripheral dysostosis and mental deficiency. X‐rays reveal generalized shortening of metacarpals, metatarsals and phalanges, hyperplasia of the first ray of the feet and premature skeletal maturation. Occasionally abnormal interpedicular spinal spaces, increased mandibular angle and hearing loss have been observed. We report a 19‐year‐old woman and her daughter examined at birth and subsequently at 6 years of age. The clinical and radiological characteristics are those of acrodysostosis. The syndrome is easily recognized at birth. The generalized corporal shortening is progressive and could be due to premature closing of epiphyses. The finding of an affected mother and her daughter support the postulate that acrodysostosis is inherited as an autosomal dominant syndrome.

Adult case of acrodysostosis with severe neurologic involvement

“…Severe shortening of the metacarpals, metatarsals, and phalanges are caused by prematurely fused cone-shaped epiphyses. Abnormalities of the skin appendages (broad and short nails) can occur [5,8,11,12]. Our patient had the marked facial and peripheral appearance of acrodysostosis.…”

“…Vertebral defects include decreased interpedicular distance, collapsed vertebrae, and spinal stenosis [5,11,12]. Only one adult with neurologic symptoms (i.e., sciatica, numbness and claudication), possibly due to spinal canal stenosis, has been reported [4].…”

“…The etiology and prevalence of are un-known. Many reported cases are sporadic, but some are familial and are transmitted as an autosomal dominant trait [5,12,13].…”

Acrodysostosis with unusual iridal color changing with age

“…Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone‐shaped epiphyses, advanced bone‐age, and variable degrees of mental retardation [Robinow et al, 1971; Niikawa et al, 1978; Butler et al, 1988; Hernandez et al, 1991; Steiner and Pagon, 1992; Faivre et al, 2001]. Parent‐child transmissions in most familial cases indicated an autosomal dominant mode of inheritance, and two reported sib‐cases either from phenotypically normal parents or a mother with forme fruste [Niikawa et al, 1978; Taillet‐Bellemere and Maroteaux, 1991] suggested gonadal mosaicism.…”

Acrodysostosis associated with hypercalcemia

“…[1][2][3] Although the mode of inheritance is thought to be autosomal dominant, most cases of acrodysostosis appear to be sporadic. 4,5 To date, about 50 cases have been reported in the international literature and the cause still remains obscure. It should be noted here that Albright's hereditary osteodystrophy (AHO) has the same clinical features, but molecular, radiological and biochemical studies suggest that acrodysostosis is clinically different from pseudo-hypoparathyroidism.…”