Familial mandibuloacral dysplasia: Report of an additional Italian patient

Abstract

Mandibuloacral dysplasia is a rare condition. Only 11 families have been reported and five of them were Italian, while consanguinity was found only in one report. We describe an additional Italian patient born from consanguineous parents.

Maxillofacial and Dental Manifestations in a Patient with Mandibulo-Acral Dysplasia

“…2,7 In this case, the presentation of consanguineous parents and the history of an affected sibling with similar physical characteristics strengthens the data suggesting that MAD has an autosomal recessive trait. 2,7-10 Only two out of the eleven previously reported families with MAD were determined to be consanguineous.…”

“…2,7-10 Only two out of the eleven previously reported families with MAD were determined to be consanguineous. 2,3 We believe that this case, where the parents of the patient were first-degree cousins, will add to the data on consanguinity. However, since consanguineous marriages in Turkey have a relatively high incidence, 11 the association may be considered coincidental.…”

“…The main features of the syndrome are known as delayed cranial suture closure, mandibular hypoplasia, dental crowding, hypoplastic clavicles, stiff joints, atrophy of the skin over the hands and feet, short stature, progeroid facial appearance, alopecia and acroosteolysis. [2][3][4][5] To our knowledge, there are only 25 reported cases and the majority of these are of Italian origin. 2,6 Here, we report the important case of the first Turkish patient with MAD who displayed the most severe maxillofacial and dental abnormalities known to date and who underwent therapy for the developmental orofacial morbidity.…”

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

“…Several studies have shown that there is a specific genotype-phenotype correlation between the R527H mutation and MADA (Novelli et al, 2002;Shen et al, 2003). Previous studies also postulated that only MADA is caused by R527H and that there is a correlation between the R527H mutation and lipodystrophy pattern (Tudisco et al, 2000;Simha et al, 2003). LMNA gene homozygous R527H or A529V or A529T mutations have been reported in MADA.…”

“…It was believed that hyperglycemia in heterozygous carriers might have been related to a heterozygous LMNA Ala529Val mutation. According to several studies, lipodystrophy and metabolic findings of insulin resistance such as diabetes mellitus and hypertriglyceridemia have also been reported in some patients with the LMNA mutation (Tudisco et al, 2000;Simha and Garg, 2002). Further studies are required to confirm the relationship between LMNA mutations, insulin resistance, and hyperglycemia.…”