Acromegaloid Facial Appearance: Case Report and Literature Review

Table 2

A review of the reported cases/families with AFA.

	Present case	Hughes et al. [5]	Dallapiccola et al. [6]	Irvine et al. [7]	Da-Silva et al. [8]	Stratakis et al. [9]	Zelante et al. [10]	Zen et al. [11]	Kini and Clayton-Smith; [12]
Coarse facies	+	+	+	+	+	+	+	+	+
Bulbous nose	+	+	+	+	+	+	+	+	+
Thickened lips	+	+	+	+	+	+	+	+	+
Narrow palpebral fissure	+	+	+	−	+	+	+	+	+
Thick intraoral mucosa	−	+	+	−	+	−	+	−	+
Large hands	−	+	+	−	−	−	+	+	−
Hyperextensible joints	−	+	+	−	−	−	−	−	+
High arched eyebrows	+	+	−	−	−	−	−	−	−
Recurrent pericardial effusions	−	−	−	Father of proband	−	−	+	−	−
Low IQ/learning disabilities	−	−	+	UNK	UNK	UNK	−	UNK	+
Terminal hypertrichosis	+	−	−	+	−	−	+	+	−
Mode of inheritance	IP	AD	AD	AD	UNK	IP	UNK	?AR	IP
Chromosomal anomalies	None	Not done	Not done	Not done	Not done	+	Not done	Not done	None

−: absent, +: present, UNK: unknown, AD: autosomal dominant, AR: autosomal recessive and IP: incomplete penetrance.