Acromicric dysplasia and geleophysic dysplasia: similarities and differences.

Unlabelled: We report on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint stiffness, mild aortic and mitral valve insufficiency, and normal intelligence. These features are compatible with the diagnosis acromicric dysplasia. The differential diagnosis with Moore-Federman syndrome and geleophysic dysplasia is discussed; major points to consider in differentiating these entities are the facial appearance, the aspect of the proximal femora, and the presence or absence of storage phenomena.

A Croatian case of the Schinzel-Giedion syndrome.

The Schinzel-Giedion syndrome is an infrequently described malformation syndrome, mainly characterized by a profound mental deficiency, a typical face including a midface hypoplasia, urogenital abnormalities, and minor radiographic features. Death prior to two year of age is the rule. A boy with typical features of the syndrome is described.

Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome.

Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges.

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase activity in fibroblasts.

Piezogenic papules of the feet in healthy children and their possible relation with connective tissue disorders.

Piezogenic papules (PP) are pressure-induced lesions that appear on the heels while bearing weight, due to herniation of fat tissue into the dermis. They are present in the majority of adults. Because of the poor quality of connective tissue in hereditary disorders of connective tissue, such as the Ehlers-Danlos syndrome, it has been suggested that PP would be larger in number and diameter in this group of disorders.

[Attacks of apnea in an infant with achondroplasia].

Infants and children with achondroplasia are at increased risk of sudden death because of apneic attacks caused by compression of the medulla oblongata or spinal cord by a constricted foramen magnum or narrow upper cervical spinal canal. This history of an infant with achondroplasia is discussed. As a result of apneic attacks she developed severe brain damage.

Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset.

A neurodegenerative disease is reported in 5 related families, belonging to a Dutch genetic isolate. Seven children (5 females, 2 males) had microcephaly, spastic pareses, severe extrapyramidal dyskinesia and failure to acquire any voluntary skills. Four died during childhood.

Cerebrovascular disease in Ehlers-Danlos syndrome type IV.

We describe two patients with cerebrovascular complications of Ehlers-Danlos syndrome type IV. A 16-year-old girl with spontaneous internal carotid artery dissection and a 46-year-old woman with aneurysmal subarachnoid hemorrhage and multiple aortic dissections were both deficient in collagen type III, analyzed in cultured skin fibroblasts. To our knowledge, spontaneous carotid artery dissection associated with collagen type III deficiency has not been reported previously.

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.

Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities.

This report describes a non-retarded human male, mosaic for a 47,XY,+8 and a 48,XXYY cell line. The 47,XY,+8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome.

A girl with the Pitt-Rogers-Danks syndrome.

A severely mentally retarded girl is presented, with symptoms as described by Pitt, Rogers, and Danks (pre- and postnatal growth retardation, and unusual facies). Additional manifestations are glaucoma, pre-auricular pits, and an atrial septal defect.

The poikiloderma of Rothmund-Thomson syndrome: changes in Langerhans cell morphology and distribution.

A black girl with the Rothmund-Thomson syndrome is presented. Immunophenotyping of subpopulations of immunocompetent cells in a biopsy of an atrophic hyperpigmented skin lesion revealed sparsity and unusual distribution of epidermal Langerhans cells. These cells were mainly located in the basal layer of the epidermis and did not show the usual dendritic pattern.

Clinical presentations of Ehlers Danlos syndrome type IV.

Ehlers Danlos syndrome type IV is an often lethal disease caused by various mutations of type III collagen genes. It presents in infancy and childhood in several ways, and the symptoms and signs include low birth weight, prematurity, congenital dislocation of the hips, easy inappropriate bruising (sometimes suspected as child battering), and a diagnostic facial phenotype. These features predict a lethal adult disease often complicated by fatal arterial rupture in early or middle adult life.

De novo partial trisomy 15q (proximal type).

This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.

Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type.

The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed RCDP to be a peroxisomal disorder.

Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.

A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described. In early life the diagnosis of Zellweger (cerebro-hepato-renal) syndrome was considered because of hypotonia, craniofacial dysmorphia, abnormal liver functions and pipecolic aciduria. Biochemical studies in fibroblasts from the patient revealed a general peroxisomal dysfunction comparable to the findings in Zellweger Syndrome.

Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases.

In 1952 Ito described the occurrence of a bilateral systematized depigmented nevus in a 22-year-old Japanese woman. He used the term incontinentia pigmenti achromians. The condition has been described under various designations, such as for instance Ito's hypomelanosis.

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin.

An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as standard deviation score, increased from 2.

An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy.

An infant is presented with a Marfanoid phenotype and congenital contractures. In addition to this she showed severe neurological and ocular abnormalities. Cardiac insufficiency due to mitral and tricuspidal valve prolapse caused her death at the age of 6 months.

[Congenital muscular dystrophy--its spectrum].

Congenital muscular dystrophy is a relatively unknown primary myopathy with autosomal recessive inheritance. The literature on this entity is discussed and augmented with the authors' own experience. The prevalence of cerebral abnormalities in patients with this disorder is emphasized.

[Monozygotic twins with Williams-Beuren or 'elfen-face' syndrome].

Monozygotic male twins with the Williams-Beuren or 'elfin-face' syndrome are described. One twin showed the typical signs of supravalvular aortic stenosis, which is consistent with the cardiovascular symptoms usually found in this syndrome. The somatic and genetic aspects of the syndrome are discussed by reviewing the literature.