Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent with autosomal dominant inheritance with great variation in severity between affected subjects. The importance of examining other family members closely in cases of multiple pterygium is emphasised. Pterygium syndromes have been described since 1880 but have proved difficult to classify. In recent years there has been renewed interest in the limb pterygium syndromes, together with further refinement in definition and classification.' The features of multiple pterygium syndrome2 3 include webbing of the neck and popliteal and antecubital fossae, with associated scoliosis, syndactyly, camptodactyly, and short stature. A family, consisting of three sibs and their mother, is reported where the most severely affected member has features consistent with this multiple pterygium syndrome. Other family members have some features of the multiple pterygium syndrome in a less severe form and resemble the syndrome of multiple pterygia, ptosis, and skeletal abnormalities described by Frias et al,4 but with the additional features of short stature and mental retardation. Case reports CASE 1 Case 1, the proband (111.1, fig 1), a 24 year old male, requested genetic counselling because of his scoliosis. He was the first of three children born to unrelated parents. Pregnancy, delivery, and early development were normal. He was fully active and was of normal stature until the age of 10 years when a routine medical examination revealed scoliosis. This required surgery at the age of 14. Subsequently he has remained well and symptom free. Examination (figs 2 and 3) showed a short young man (159 cm, <3rd centile). His intelligence appeared low normal although it has not been formally assessed. He had slightly nasal speech, a short neck, ptosis, and low

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