craniosynostosis, ptosis, hypodontia, prominent and everted lower lip, mental retardation: a second case of mehta-lewis-patton syndrome?

an 11-year-old boy was referred to us for further investigation because he had dysmorphic features and was mentally challenged. he was the first child of healthy, non-consanguineous parents. he was born with a low birth weight of 1300g, length of 44cm and a head circumference of 32cm. there was a significant delay in developmental milestones. on clinical examination, he had a slender body weighing 27 kg, he was 128 cm tall and hid head circumference was 48 cm. there was asymmetrical ptosis of the right eye. on ophthalmic examination, he had refractive accommodative isotropia and strabismic amblyopia. his ears were prominent. there was a long philtrum and a prominent everted lower lip. the teeth were small, conical and wildly spaced. no deformity was seen in his fingers, toes and joints. his intelligence quotient was between 50 and 69. the skull x-ray showed craniosynostosis. karyotype was normal. echocardiogram showed mitral valve prolapse with 60% ejection fraction. in 1989, mehta et al described an unknown syndrome in a two-year-old male with congenital heart disease, bilateral ptosis, abnormally shaped teeth, craniosynostosis, prominent and low set ears, long philtrum, a prominent lower lip, joint laxity, long fingers and toes and delay in psychomotor development. he had a repair of total anomalous pulmonary venous drainage at six days of age. although many features of our case are similar to the case reported by mehta and colleagues, congenital heart disease and joint laxity were not seen in this case. we used lmd but could not place all of the clinical features of this case with a recognized syndrome. however, the majority of clinical features appear to match with the unknown syndrome described by mehta et al. this is an unknown case with special facial features and mental retardation which can be the second case of mehta-lewis-patton syndrome.