On the nosology of the craniodigital syndromes: report of a family and review of the literature.

During a systematic survey for genetic causes of mental retardation in schools for adolescents with learning problems we had the occasion to examine a 16-year-old moderately mentally retarded boy with facial dysmorphism, short stature, relative microcephaly, complete cutaneous syndactyly of fingers III/IV and of toes II/III. Partial clinical manifestations (low to subnormal intelligence and syndactyly) were present in his mother and sister. We discuss the nosology and differential diagnosis of the craniodigital syndromes.

Marden-Walker phenotype: a diagnostic dilemma.

Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of this condition are blepharophimosis, micrognatia, congenital joint contractures, mental retardation, growth retardation and decreased muscular mass. Follow-up data of patients with this condition are scarce and most patients reported so far were infants or young children.

Variable expression of the popliteal pterygium syndrome in two 3-generation families.

Three successive generations in two families affected with the popliteal pterygium syndrome are reported. While expression of the syndrome was relatively mild in the first and second generation, the patients in the third generation showed the full-blown syndrome. Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome and those with Van der Woude syndrome is difficult and may even be impossible.

The KBG syndrome: follow-up data on three affected brothers.

In this report we present follow-up data on a family in which several members were found to have short stature, craniofacial anomalies and dento-skeletal abnormalities (KBG-syndrome). As adults, the three affected brothers of the original report are moderately to severely mentally retarded. Their phenotype with a distinct craniofacial appearance did not change much from that seen during childhood and adolescence.

Corpus callosum agenesis in Coffin-Lowry syndrome.

We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis. Follow-up data are given and diagnostic considerations are discussed. A review is given of the CNS-malformations so far reported in patients with the syndrome of Coffin-Lowry.