An acromegalic phenotype in late childhood or early adulthood is shared by a variety of clinical conditions, including growth hormone (GH) excess.1 Exclusion of an abnormality of the somatotrophic axis in a young patient with acromegaloid features should lead the differential diagnosis towards diagnoses such as pachydermoperiostosis (MIM 1671002)3-5 or insulin mediated pseudoacromegaly, a disorder associated with severe insulin resistance.6 In the absence of insulin resistance and findings characteristic of pachydermoperiostosis, such as thickening of the periosteum (visible mostly in skull xrays) or the skin, acrolysis, or alopecia,4 5 7 another genetic syndrome associated with acromegaloid features may be considered.8-13 These are rare conditions, having each been described in individual kindreds, and their causes remain unknown. Inheritance, when present, appears to be as an autosomal dominant trait. They are almost always associated with abnormalities of the skin, the mucosa, and its appendages, such as keratitis,9thickened mucosa,10 hypertrichosis,12 and cutis verticis gyrata.8 13

In this report, we identify a chromosomal anomaly that was confirmed by fluorescence in situ hybridisation (FISH) in a patient with acromegaloid features and his family. The patient, his mother, and sibs participated in protocol 97-CH-0076 (National Institute of Child Health and Human Development, National Institutes of Health (NIH)) and consented to cytogenetic and DNA studies, and the use of the proband's photographs for the purposes of medical education and publication.