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Biomedical subjects

M Haspeslagh

Publications and source records attributed to M Haspeslagh.

At least 19 recordsLinked to original sources
PubMed1991

A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X-linked mental retardation.

In this study we report the results of a systematic etiological, clinical genetic study in 307 institutionalized mentally retarded adult males. Special attention is paid to the nosology of X-linked mental retardation. During the survey 63 males with one or more 'Martin Bell'-like features were identified in whom repetitive fragile Xq27-3 screenings were negative. In 13 of them, belonging to 9 different families, pedigree data were compatible with X-linked inheritance. This finding confirms the existence of one (or more) forms of fra(x) negative mental retardation with 'Martin Bell'-like features.

Adult↗
PubMed1987

A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper-pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.

Adult↗
PubMed1985

9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors?

In this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p trisomy phenotype this patient presented with multiple cutaneous leiomyomata. The question is raised whether the concurrence of the chromosomal anomaly and the multiple skin tumors in this patient indicates another example of a specific chromosomal deletion (18pter) in a dominantly inherited multiple human tumor.

Adult↗
PubMed1985

A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst.

We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias.

Abnormalities, Multiple↗
PubMed1985

Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome.

During a systematic survey of the mentally retarded, 3 related females were seen with a similar syndrome of shortness, unusual combination of craniofacial anomalies (trigonocephaly; bulging forehead; flat face; posteriorly angulated, lowset ears and microretrognathia), and genital hypoplasia in all 3 cases, and multiple pterygia in one. The facial changes were also noted in 2 grandmothers and may indicate autosomal dominant inheritance of this presently "private" MCA/MR syndrome.

Abnormalities, Multiple↗
PubMed1985

A boy with acromesomelic dysplasia. Growth course and growth hormone release.

A 2 6/12-year-old boy is reported with the typical clinical and radiological features of acromesomelic dysplasia. This rare skeletal dysplasia is inherited as an autosomal recessive trait, and differential diagnosis is to be made with pseudoachondroplasia and acrodysostosis. Endocrine investigations were performed, and their results are found to be normal. Longitudinal growth reveals a very early slowing down of growth velocity.

Blood Glucose↗
PubMed1984

The Coffin-Lowry syndrome. A study of two new index patients and their families.

Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.

Adult↗
PubMed1984

Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?

Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.

Adolescent↗
PubMed1984

The Coffin-Siris syndrome: report of a family and further delineation.

The familial occurrence of the Coffin-Siris syndrome, combining a typical facial appearance with hypoplastic or absent fifth finger- or toenails, is reported. The full expression of the syndrome was present in two sisters, and partial clinical manifestations were present in their mentally borderline father. The relevant literature is reviewed, and the relation and confusion with other mental retardation syndromes, mainly the Coffin-Lowry syndrome, is discussed.

Adult↗
PubMed1984

Early clinical signs in Coffin-Lowry syndrome.

Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel beyond the age of two years may be another associated finding. Retarded bone age, coarsity of the face and skeletal malformations considered characteristic in adult patients were not present. Early recognition of Coffin-Lowry syndrome is important for genetic counseling and prevention of severe skeletal malformations.

Abnormalities, Multiple↗
PubMed1984

Severe limb malformations in 4p deletion.

Severe limb anomalies with radial aplasia and hypodactylia are reported in a male newborn with 4p deletion syndrome. In apparent contradiction with previous reports, this finding indicates that the radial aplasia, as frequently observed in patients with ring chromosome 4, seems to be more likely related to the 4p deletion, rather than to the 4q deletion.

Abnormalities, Multiple↗