Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.

Severe congenital hypothyroidism (CH) due to a total iodide organification defect (TIOD) is usually due to mutations in the thyroid peroxidase (TPO) gene located at chromosome 2p25. A homozygous deletion [DeltaT2512 (codon 808)] in exon 14 was identified in a patient with classical TIOD. The transmission pattern of the TPO gene in this family was anomalous; the mother was heterozygous for the deletion; and the mutation was absent in the father.

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.

Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort of eight Dutch NPS families were screened for mutations in the LMX1B gene; seven different mutations, including one novel variant, were identified.

Myopathology in patients with a Noonan phenotype.

Two patients with a Noonan phenotype and progressive hypertrophic obstructive cardiomyopathy are described, in whom abnormal histopathological changes in striated musculature were detected. In both patients an increased density of muscle spindles was found at biopsy. The significance of an increased density of muscle spindles in patients with Noonan phenotype can only be speculated.

Clinical and molecular studies in a large Dutch family with Noonan syndrome.

We describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a biochemical marker NS is still a clinical diagnosis.

Oculoauriculovertebral spectrum and cerebral anomalies.

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group.

Fabrication and characterization of an asymmetric polyurethane membrane for use as a wound dressing.

To prevent wound dehydration and bacterial penetration, a wound dressing should be occlusive, but on the other hand it should also be permeable for wound exudate to prevent bullae formation. To meet these requirements a new type of polyurethane wound dressing which consists of a microporous top layer (pore size less than 0.7 mum) supported by a sublayer with a highly porous sponge-like structure containing micropores (pore size less than 10 mum) as well as macropores (pore size: 50-100 mum) was designed.

Three-dimensional computer reconstruction of the eustachian tube and paratubal muscles.

A new method of anatomic dissection and image reconstruction using computer techniques for better understanding of eustachian tube (ET) functioning is presented. Coronal sections of two noncleft fetal skulls were photographed and projected on a graphic tablet. Contours of the pertinent structures were digitized using a mouse.

[The TINU syndrome in children (tubular interstitial nephritis with uveitis)].

Acute tubulo interstitial nephritis accompanied by uveitis is identified as TINU syndrome. The TINU syndrome is isolated from other forms of tubulo interstitial nephritis by the particular symptomatology and course: the nephropathy is almost always reversible, the uveitis tends towards relapses. The histopathologic findings are compatible with disturbance of cellular immunity, but the exact etiology is still unknown.

[The yield of autopsies in a pediatric practice].

The yield of autopsies in a paediatric population. A retrospective analysis is presented of 91 autopsies on children, who died during the period January 1975 and December 1984 in St. Joseph Ziekenhuis, Eindhoven.

Rubinstein-Taybi syndrome in a mother and son.

The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome.

[Hereditary onycho-osteodysplasia (HOOD)].

Hereditary onycho-osteodysplasia (HOOD) is an autosomal dominant condition, characterized by dysplasia of the nails and joints and extra bone formation at the os ilium. Nephropathy occurs in some families with HOOD. We discuss a patient's history and the results of the study of her family.

[The importance of pressure registration in mask-balloon ventilation].

In positive pressure hand ventilation appropriate ventilatory pressures are essential for effectiveness and safety of treatment. Workers in a Neonatal Intensive Care Unit were asked to ventilate an imaginary patient. A diaphragm-manometer was used for measurements.

[An intrapartal silent oscillation type in fetal Wolff-Parkinson-White syndrome].

A discrepancy between auscultatory findings and the cardiotachogram was caused by technical limits of the cardiotocograph. The neonatal ECG showed a Wolff-Parkinson-White pattern with severe tachycardia. Some aspects of perinatal care in serious fetal and neonatal tachycardia are discussed.

Development of a neo-artery induced by a biodegradable polymeric vascular prosthesis.

A microporous, compliant and biodegradable vascular prosthesis prepared from a polyurethane-poly-L-lactic-acid (PU-PLLA) mixture, induces fast growth of a neo-artery after implantation as an arterial substitute. The prostheses used in this study resulted in 100% patency. Mechanical functionality of the neo-arteries is suggested by the regeneration of elastic laminae throughout the subintimal tissue.

Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.

Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease.

A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects.

A case of Focal Dermal Hypoplasia (Goltz syndrome), diagnosed at birth, is reported. Some findings not formerly described (hemimelia, schizis of the palatum molle and the absence of one umbilical artery) are reported. Normal findings in chromosome studies with banding techniques are discussed.