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PubMed2003

Fatal case of Salmonella enterica subsp. arizonae gastroenteritis in an infant with microcephaly.

Salmonella enterica subsp. arizonae is a common gut inhabitant of reptiles, with snakes as the most common reservoir. Though human cases due to this organism are exceedingly rare, it may infect young infants and immunocompromised individuals with a history of intimate associations with reptiles. Gastroenteritis is the most common presentation; others include peritonitis, pleuritis, osteomyelitis, meningitis, and bacteremia. We report a fatal case of S. enterica subsp. arizonae gastroenteritis in a 3-month-old child with microcephaly, with a review of earlier cases and problems encountered in identification of this rare human pathogen.

Fatal Outcome↗
PubMed1975

Microcephaly following baby battering and shaking.

Three cases of microcephaly following the rough handling of babies are described. If detailed social and psychiatric information had not been available, these three children would have become part of the large proportion of individuals in subnormality hospitals who have unsatisfactory and incomplete diagnoses.

Battered Child Syndrome↗
PubMed1977

Two reciprocal translocations associated with microcephaly and retardation.

The first case is reported of a karyotype containing two apparently unrelated reciprocal translocations, involving chromosomes 1, 2, 5, and 7. It is suggested that the patient's psychomotor retardation and microcephaly may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

Chromosome Aberrations↗
PubMed1986

Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.

Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised.

Abnormalities, Multiple↗
PubMed1987

Microcephaly, microphthalmos, and retinal folds: report of a family.

A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.

Abnormalities, Multiple↗
PubMed1988

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

We describe three children with Hirschsprung's disease and microcephaly, two of whom also have an iris coloboma. Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree. The third case is unrelated and was identified by the matching program of the London Dysmorphology Database. This is the first report of this combination of features which are considered to be secondary to defective neuronal migration. An autosomal recessive mode of inheritance is proposed.

Coloboma↗
PubMed1989

Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities.

We present two male sibs with a series of malformations including microcephaly, mental retardation, congenital heart disease, skeletal abnormalities, micropenis, and mild hypothyroidism. Both have had seizures. While the pattern of abnormalities is similar to that previously reported in this journal as an unknown syndrome, the facies is clearly distinct, the hypothyroidism is mild, micropenis is present, and there are additional minor skeletal abnormalities.

Bone and Bones↗
PubMed1989

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome associated with ring chromosome 14, r(14), has been established, no distinct pattern has been so far reported in 14q-.

Adult↗
PubMed1991

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

We report two families with an autosomal dominant syndrome of abnormalities of the hands and feet, short palpebral fissures, and variable microcephaly with learning disability. Between a third and a quarter of cases are born with oesophageal atresia, duodenal atresia, or both. Individual patients have hypoplastic thumbs or congenital heart disease. The phenotype of the syndrome reported here is similar to that observed in 13q22-qter deletion patients. However, chromosome analysis has not detected any structural abnormality in our patients.

Duodenal Obstruction↗
PubMed1991

Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?

A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.

Abnormalities, Multiple↗
PubMed1996

Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.

We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied infections. Immunological studies showed a marked decrease in leucocyte chemotaxis. Clinical and laboratory findings confirm the similarity of this case to the two brothers described by Say et al. We have not found any descriptions of similar patients. The purpose of this paper is to contribute to the phenotypic delineation of this syndrome and to highlight the need for immunological investigation in patients with multiple congenital malformations.

Abnormalities, Multiple↗