Dallapiccola B, Zelante L, Accadia L, Mingarelli R
Department of Public Health and Cell, Vergata University, Roma, Italy.
J Med Genet. 1992 Jun;29(6):419-22. doi: 10.1136/jmg.29.6.419.
A family is reported in which the 'acromegaloid facial appearance' (AFA) phenotype was segregating through two generations. The five affected persons showed a striking resemblance to the patients previously reported, including progressively coarse acromegaloid-like facial appearance, narrow palpebral fissures, bulbous nose, and thickening of the lips and intraoral mucosa, resulting in exaggerated rugae and frenula. These patients also had increased birth weight and dull mentality. It is unclear if the differences between the two families mark distinct syndromes or simply extend the AFA phenotype.
据报道，有一个家族中“肢端肥大症样面容”（AFA）表型在两代人中分离。五名受影响者与先前报道的患者有显著相似之处，包括逐渐变得粗糙的肢端肥大症样面容、睑裂狭窄、球鼻、嘴唇和口腔黏膜增厚，导致皱襞和系带夸张。这些患者出生体重也增加且智力迟钝。尚不清楚这两个家族之间的差异是标志着不同的综合征还是仅仅扩展了AFA表型。
