Short stature, hands and feet, and brachycephaly.
Distinct facies characterized by prominent mandible, small, broad nose with
flat nasal bridge, and small mouth. Other abnormalities affect skin,
genitals, teeth, and musculoskeletal system. Mental retardation is present
in 90% of children and can be severe.
Acrodysostosis Syndrome; Maroteaux-Malamut Syndrome.
Chromosome studies have been normal. An
autosomal dominant inheritance pattern has been described in two families.
Sporadic cases have been described. The average parental age was slightly
increased compared to the general parent population, which suggests advanced
parental age is a risk factor for the condition.
Unknown. Some researchers consider the disorder to
be a normocalcemic variant of pseudohypoparathyroidism.
Based on clinical features, with absence of endocrine
abnormalities distinguishing it from pseudohypoparathyroidism. Epiphyseal
stippling on radiologic examination is a constant finding in infancy.
The most common manifestations (present in
>75% of patients) include mental retardation and/or learning
difficulties, hypoplasia of the nose (short, broad nose with depressed nasal
bridge) and the maxilla (often with prognathism), peripheral dysostosis,
hyperplasia of the first ray of the foot, acromesomelic brachymelia, and
decreased interpedicular distance of the vertebrae. A small mouth and marked
hearing loss are other common findings. On radiologic examination advanced
skeletal maturation is seen in combination with cone-shaped epiphyses,
peripheral dysostosis, and abnormal metacarpophalangeal pattern profile. The
hands and feet appear small secondary to shortening of the tubular bones.
Poor growth results in brachymelic dwarfism.
Mental retardation and hearing loss
may make the management of these patients difficult. Sedative or anxiolytic
premedication and the presence of the primary caregiver during induction may
be helpful. Careful assessment of the airway in consideration of difficult
airway management (hypoplastic maxilla, vertebral anomalies) is needed.
Blood workup should include electrolytes, particularly calcium and phosphate
levels to rule out pseudohypoparathyroidism.
Hypoplasia of the maxilla may lead to
airway obstruction under anesthesia. Maintenance of spontaneous ventilation
until the airway has been secured is recommended. Significant restrictions
of hands, feet, and spine mobility may make positioning difficult and
requires careful padding.
Avoid neuromuscular blockers until
the airway has been secured.
Albright Hereditary Osteodystrophy: Syndrome presenting
with round face, short stature, short neck, and obesity.
Subcutaneous and intracranial calcifications, seizures, and neuromuscular
problems such as fatigue and muscle cramps. Pseudohypoparathyroidism and
Hernandez RM, Miranda A, Kofman-Alfaro S: Acrodysostosis in two
generations: An autosomal dominant syndrome. Clin Genet
Butler MG, Rames LJ, Wadlington WB: Acrodysostosis: Report of a 13-year-old
boy with review of literature and metacarpophalangeal pattern profile
analysis. Am J Med Genet