Heminasal aplasia: a case report and review of the literature of the last 25 years.

We report a child with right-sided heminasal aplasia in combination with anomalies of the right eye and maxilla. Unilateral aplasia of the nose is a rare congenital malformation. It is often associated with other malformations of the facial region, including abnormalities of the eye and lacrimal system, proboscis lateralis, and facial bone malformations. The eye anomalies in our patient consisted of microphthalmia with blepharophimosis and coloboma of the iris, retina and upper eyelid. Also hypoplasia of the lacrimal apparatus and right maxilla, and a rudimentary alveolar cleft on the same side were present. The embryological development of the midface can explain this association of anomalies.

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare but well-defined clinical entity that is usually inherited as an autosomal dominant trait. A limited number of patients carry a deletion in chromosome 20p, with 20p11.23-p12.2 as the area of minimal overlap. Recently, a family has been identified in which a balanced translocation with a breakpoint in 20p12 co-segregates with the AGS phenotype. Here, we report a three-generation family with AGS and in which the affected members have a normal karyotype. Linkage analysis was performed with markers from the 20p candidate region. A lod score of Z = 2.96 was obtained with D20S27 at no recombination. Combining D20S27 and D20S61 to a single highly informative locus resulted in a maximum lod score of Z = +3.56 at theta = 0.0. Haplotype analysis positioned AGS between D20S59 and D20S65, markers that define an interval of about 40 cM. Allelic loss was not observed for the tested markers and no abnormalities in the PAX1 candidate gene were detected. These findings demonstrate that the locus on chromosome 20p could be responsible for AGS in cytogenetically normal patients and argues for a general role of this locus in the aetiology of AGS.

[Intrauterine invagination in a newborn infant]. / Intra-uteriene invaginatie bij een pasgeborene.

Intussusception in neonates is rare. We present a case of neonatal intrauterine intussusception, which was treated by partial colectomy. Differences between neonatal and infantile intussusception are detailed. Because of the advanced clinical signs of intestinal obstruction and the increased risk of perforation when hydrostatic reduction is performed, operative reduction and/or resection is recommended.

[Problems of differential diagnosis in children with acute leukemia]. / Differentieel diagnostische problemen bij kinderen met acute leukemie.

In most cases, a diagnosis of acute leukemia is easily made. Some less frequently occurring signs and symptoms in children with acute leukemia are discussed, as well as some possibilities in the differential diagnosis.

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in ths exceptional family are reported and discussed.