nCPAP Improves the Quality of Life of Siblings with Mandibuloacral Dysplasia

Mandibuloacral dysplasia (MAD; MIM 248370, 608612) is a rare progeroid syndrome with autosomal reces- sive inheritance. It is characterized by mandibular hypoplasia, acroosteolysis, delayed closure of the cranial sutures, skin atrophy with mottled hyperpigmentation, stiff joints, and growth retardation. We here report Japanese female siblings with a severe MAD phenotype. Because of extreme micrognathia and small mouth and nostril, obstructive sleep apnea syn- drome (OSAS) was observed in both sisters and was especially life-threatening in the younger sister. Nasal continuous positive airway pressure (nCPAP), which seemed to be only one therapeutic choice for these sisters since impaired bone healing made oral surgical approach including maxillomandibular advancement surgery inapplicable to these sisters, suc- cessfully alleviated OSAS in both sisters. Since the initiation of nCPAP, the younger sister has gained weight constantly and her developmental milestones have been steadily achieved. We conclude that possible life threatening sleep- disordered breathing in the patients with progeroid syndromes should be properly managed.