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Biomedical subjects

M Baraitser

Publications and source records attributed to M Baraitser.

At least 37 records · Page 2Linked to original sources
PubMed1995

Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family.

The phenotypic nonspecificity of many forms of X-linked mental retardation has hampered attempts to classify them into clinically homogeneous groups. One such condition, described by Clark and Baraitser [1987: Am J Med Genet 26:13-15], has been the subject of a single pedigree report to date. We now describe a further pedigree whose affected members share many manifestations with those reported by Clark and Baraitser, and we consider the possible distinction between this condition and Atkin-Flaitz syndrome.

Brain↗
PubMed1995

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.

Genital abnormalities have been noted in several patients with the X-linked form of alpha-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype. To this we now add 2 further siblings with abnormalities of the external genitalia, manifesting as male pseudohermaphroditism.

Abnormalities, Multiple↗
PubMed1995

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation.

Acrocephalosyndactylia↗
PubMed1995

Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?

We report three male siblings with mild mental retardation, congenital cataract, sensorineural deafness, hypogonadism, hypertrichosis and short stature. This combination has not been previously reported and we suggest this is a new syndrome. Although X-linked recessive inheritance cannot be fully excluded, we favour autosomal recessive inheritance because of parental consanguinity.

Adolescent↗
PubMed1995

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.

A small pilot study has been carried out in order to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridisation (FISH) analysis, as a diagnostic test in both classical and atypical cases of Williams syndrome (WS). Five subjects with WS and five others in whom a diagnosis could not be confirmed on clinical criteria alone were evaluated. Hemizygosity at the elastin locus by FISH analysis was detected in all classical Williams syndrome cases and in three of the five atypical subjects. Furthermore, a combination of a few specific facial features found to be present in all subjects with the elastin gene hemizygosity has been suggested to aid the index of clinical suspicion.

Abnormalities, Multiple↗
PubMed1995

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.

Five children are described with a striking, asymmetric facial appearance, craniosynostosis, preaxial polysyndactyly, agenesis of the corpus callosum and unusual skin with streaky areas of atrophy. The gut and mucous membranes are involved in two patients. This paper includes two patients described by Gorlin (1990) under the designation of the Curry Jones syndrome.

Abnormalities, Multiple↗
PubMed1995

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable similarity of physical signs in all four cases. The striking skin fragility which attends the phenotype is highly distinctive, so that the diagnosis may be suspected on clinical grounds. The confirmatory diagnostic procedures are discussed.

Adolescent↗
PubMed1994

New case of the Carey-Fineman-Ziter syndrome.

We present a further case, the fourth known to us, of the Carey-Fineman-Ziter syndrome. The emergence of a consistent and recognisable phenotype, characterised by hypotonia, weakness, ophthalmoplegia, and a Möbius-like clinical picture, is emphasised.

Abnormalities, Multiple↗
PubMed1994

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

We present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered.

Brain↗
PubMed1994

Partial trisomy 3q causing mild Cornelia de Lange phenotype.

A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed.

Child, Preschool↗
PubMed1994

Megalocornea, developmental retardation and dysmorphic features: two further patients.

Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reported cases of megalocornea/mental retardation and may help to define one subtype of this heterogeneous group of conditions.

Abnormalities, Multiple↗
PubMed1994

A clinical follow-up of British patients with FG syndrome.

The FG syndrome is an X-linked recessive mental retardation syndrome. Ten patients are reviewed with special emphasis on the natural history of the intellectual development, constipation, and the prognosis for growth and behaviour. Six out of 10 patients are still macrocephalic, and there is no evidence for a specific growth pattern with respect to height. The degree of mental retardation is is usually severe. The behaviour is characteristically friendly, sociable and over-talkative, with periodic aggression. Six patients have seizures. A characteristic progression seems to occur from congenital hypotonia with joint hyperlaxity at birth, to joint contractures with apparent spasticity and unsteady gait later in life. The constipation was a temporary problem in five cases. The cowlick and the fetal pads persist and are important, but not specific, for the diagnosis.

Abnormalities, Multiple↗
PubMed1994

A case with blepharophimosis resembling Ohdo syndrome.

Another possible sporadic case of the Ohdo blepharophimosis syndrome is described and compared with the seven patients previously reported. It can be considered a distinctive syndrome showing blepharophimosis, ptosis, dental hypoplasia, mental retardation and deafness. This case helps to define the spectrum of the phenotypic anomalies.

Abnormalities, Multiple↗
PubMed1994

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.

Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports. We now add a further two instances of this rare association and emphasize that this finding should not preclude the underlying syndromic diagnosis.

Abnormalities, Multiple↗
PubMed1994

Frontofacionasal dysplasia: a new case and review of the phenotype.

A boy is presented with frontofacionasal dysplasia. The severity of his malformations exceeds that encountered in the cases described previously. The range of clinical abnormality seen in this disorder is reviewed and the delineation of the condition as a separate entity is explored.

Abnormalities, Multiple↗
PubMed1994

Total situs inversus associated with the oculo-auriculo-vertebral spectrum.

A patient is reported with the association of the oculo-auriculo-vertebral spectrum and situs inversus. Conditions with overlapping features and previously reported conditions associated with the oculo-auriculo-vertebral spectrum are reviewed. These conditions, as well as the reported association of the oculo-auriculo-vertebral spectrum and situs inversus can probably be seen as a part of the mesodermal malformation spectrum, due to an early abnormality in the development of the primitive streak or embryonic mesoderm.

Heart Defects, Congenital↗
PubMed1993

Mesomelic limb shortness: a previously unreported autosomal recessive type.

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.

Abnormalities, Multiple↗