Fraser's syndrome clinical spectrum and anaesthetic considerations in neonatal period

Fraser's syndrome which is a rare autosomal recessive disorder characterised by cryptophthalmos, defect of auricle, genital anomaly and syndactyly was seen in a neonate. This baby had all the findings originally described by Fraser and earlier known as cryptophthalmos syndactyly syndrome. The baby was taken for coloboma repair and then subsequently for syndactyly release after one month. On both occasions, anaesthetists had difficulty in intubating the baby due to laryngeal stenosis which is a rare association of Fraser's syndrome. The ultimate prognosis of such babies is poor due to multisystem involvement and as there is defect not only of eyelid formation but also associated ocular anomaly, the likelihood of achieving adequate visual perception is small

Meckel gruver's syndrome

Meckel Gruber's Syndrome, which is a rare autosomal recessive disorder characterised by occipitaI encephalocele, cleft lip and palate, microcephaly, hypoplastic or polycystic kidneys, was noted in 2 neonates at S.C.B.U.,Khoula Hospital. Both these babies were referred from Sur region and within a period of 5 months, but did not have any familial relation. Being a multisystem disorder, these patients seldom survive for few weeks to months and ultimately die due to severe central nervous defects or renal defects. Antenatal diagnosis of this condition with ultrasonic delineation of encephalocele or polycystic kidneys is possible. Also elevated levels of alpha fetoprotein may give a clue to the diagnosis