Two patients with marfanoid habitus and craniosynostosis, but with normal mental development were reported by Furlong et al., [1987] and Lacombe and Battin [1993]. We now report on a third case in a young adult male, describing the osseous findings.
CLINICAL REPORT
J.H. is the first child of healthy nonconsanguineous parents. At the time of birth, the mother's age was 15 years and the father's 33. Family history was unremarkable.
Delivery at term by double footling presentation was normal. Birth weight was 3,600 g (50th centile). The anterior fontanel was patent until his 32nd month. His psychomotor development was delayed from the beginning. He was able to walk without help and to speak at 5 years. Nevertheless, he has normal intelligence (IQ ס 95). At the age of 6 months, he was treated for a right inguinal hernia and omphalocele.
He was first seen at 16 1/2 years, after craniofacial plastic surgery for further diagnosis. The general aspect was of a marfanoid very thin young man with general muscular hypotrophy (Fig. 1). Height was 176 cm (60th centile), weight 38 kg (3rd centile), head circumference 58.4 cm (>97th centile) and chest circumference 73 cm (40th centile). His voice was hypernasal. On physical examination, the skull was dolichocephalic and he had a prominent forehead, malar hypoplasia, apparently low-set, slightly posteriorly angulated ears, ptosis of eyelids, downslanting palpebral fissures, high broad nasal root, thin upper lip, small mouth with down-turned corners, high, narrow palate, microretrognathism, narrow shoulders, long thorax with prominent pectus carinatum, kyphoscoliosis and thin limbs (Fig. 1). Cubitus valgus was present, complete exten-Contract grant sponsor: Je ´ro ˆme Lejeune Foundation.