microcephaly

Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol; became infected with a cytomegalovirus, rubella (German measles), varicella (chicken pox) virus, or possibly Zika virus; was exposed to certain toxic chemicals; or had untreated phenylketonuria (PKU, a harmful buildup of the amino acid phenylalanine in the blood). Microcephaly is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes.

Birth.Cephalic delivery at term.Female infant.Weight 2730 g (10th centile), length  cm (<3rd centile), and occipitofrontal circumference 30 cm (<3rd centile). Apga sores 8 at one and five minutes.Noted to be hypotonic.Family.Healthy, unrelated, Caucasian parents.One healthy daughter.One stillbirth at term after placental abruption: normal baby.One first trimester miscarriage.No family history of congenital abnormalities.

Subsequent course
Placed in a cot in the special care baby unit.Respiratory "'~~~~distress developed within 30 minutes of birth, presumably secondary to pulmonary hypoplasia.Because of the multiple severe abnormalities a policy of conservative treatment was adopted.Gasping at

Dysmorphology reports
Investigations Chromosomes (G banded) showed a normal female karyotype.Radiological examination showed the bones to be generally osteosclerotic with extensive periostitis and metaphyseal flaring (figs 4 and 5).These changes were particularly marked in the skull, pelvis, and long bones.Enzymology on cultured fibroblasts from a skin biopsy was normal and in particular excluded I cell disease and GM1 gangliosidosis.

Necropsy findings
Macroscopic examination showed hypoplastic lungs.The lungs weighed half their joint expected weight of 50 g.The liver and spleen were one and a half times their expected weight, weighing 15-4 g and 11 g respectively.The adrenal glands were hyperplastic; the right and left adrenals weighed 5-8 g and 6-3 g respectively, which is almost twice their expected weight.The brain was of normal size weighing 310 g.The contours of the brain were distorted by the shape of the skull but fissures and sulci appeared normal.There were no other abnormal findings on macroscopic examination.

Discussion
In spite of a detailed search of published reports we were unable to find any cases such as the one we have described.
We would like to thank Dr V Mitchell and Dr S Gilani for their help regarding the radiological aspects of this case.
J RAINE, R M WINTER, A DAVEY, AND S M TUCKER Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex HAI 3UJ.
Correspondence to Dr R M Winter, Kennedy Galton Centre, Clinical Research Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex HAl 3UJ.
Unknown syndrome: pachygyria, joint contractures, and facial abnormalities SUMMARY A male infant, the offspring of a father- daughter mating, is described.He had a lethal condition consisting of brachycephaly, large fontanelles, a flat face, a small nose with thin nares, hypertelorism, small ears with cystic pinnae, camptodactyly, talipes equinovarus, and hypoplastic lungs and kidneys.The brain was very short in the anterior-posterior diameter with simplified broad convolutions (a form of pachygyria).
Received for publication 21 November 1988.Revised version accepted for publication 25 May 1989.

Medical history
This male baby was apparently the offspring of a father- daughter mating.The parents were West Indian and the mother was a 15 year old primipara.Pregnancy and delivery were normal.Birth weight was 3200 g, crown-heel length 49 cm, crown-rump length 34 cm, and head circumference 31-5 cm (<3rd centile).The baby died at three hours of age from respiratory insufficiency.

FIG 1
FIG 1 The face at necropsy.
died at 86 minutes of age.