Two siblings with mental retardation and progressive spasticity.
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Child↗
Biomedical subjects
M Baraitser
Publications and source records attributed to M Baraitser.
Cerebellar ataxia and ectodermal dysplasia in brothers.
Two brothers are documented with an ectodermal dysplasia primarily involving the teeth and hair. Both have developed cerebellar ataxia in the early teens.
Child, Preschool↗
Cutis laxa and the Costello syndrome.
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Child, Preschool↗
A new form of familial ataxia, deafness, and mental retardation.
Conditions causing familial ataxia, deafness, and developmental delay are considered in the context of describing brothers with a new disorder characterised by these clinical features.
Cerebellar Ataxia↗
Alexander's disease: clues to diagnosis.
The clinical, radiologic, neurophysiologic, and pathologic findings in 10 children with histologically proven Alexander's disease are described, and the presence of two broad clinical subgroups is confirmed. Macrocephaly, regression, and seizures are found in the infantile form, whereas bulbar signs predominate the so-called juvenile form. None of the clinical or neurophysiologic findings is pathognomonic, and radiologic features suggesting the diagnosis are not present in all cases. However, the combination of abnormalities may suggest the diagnosis and justify histologic confirmation.
Cerebral Cortex↗
An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay.
We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.
Bone Diseases, Metabolic↗
Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?
Manifestations of Peters'-Plus syndrome include Peters' anomaly, short stature, small hands, mental retardation, abnormal ears and cleft lip and palate. 'Kivlin' syndrome is a similar disorder involving Peters' anomaly, short stature, short limbs, delayed development, facial clefting in some, ear abnormalities and a characteristic facial appearance attributable mainly to a 'cupid's bow' shape of the upper lip. Two new adult cases of Peters'-Plus are described, and follow-up information on a previously reported case of 'Kivlin' syndrome is presented. The two syndromes are reviewed and it is concluded that they are the same autosomal recessively inherited disorder, which we suggest should be called Peters'-Plus syndrome.
Abnormalities, Multiple↗
Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
The association of congenital cataracts, microphthalmia and heart disease is well recognized in fetal rubella, but genetic causes are comparatively rare and recurrence risks are usually low. We describe a woman with an atrial septal defect, bilateral congenital cataracts, unilateral microphthalmia and minor dysmorphic features, originally attributed to an unidentified infection in utero, whose daughter has a similar constellation of heart, eye and facial abnormalities. This may represent a new dominantly inherited syndrome.
Abnormalities, Multiple↗
Mild de Lange syndrome--does it exist?
A pair of mildly retarded, microcephalic twins (probably identical) are reported. They were initially diagnosed as having the de Lange syndrome on the basis of the synophrys, but, on follow-up, their main intellectual defect was in the area of expressive speech. It is suggested that the evidence in the literature for the existence of so-called mild de Lange is sparse and that the twins in this report might well have a different, possibly unique condition.
Adolescent↗
An unusual syndrome with mental retardation and sparse hair.
We report a 16-year-old female patient with an undiagnosed syndrome, of mental retardation, sparse hair, a prominent lower lip, brachydactyly with cone-shaped epiphyses.
Abnormalities, Multiple↗
Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.
We describe a family with five members in three generations affected by Duane anomaly, three of whom also have minor radial ray abnormalities. This appears to be inherited as an autosomal dominant condition and is probably the same condition as that described by Temtamy et al. in 1975 and Okihiro et al. in 1977. One member also has congenital clubbing of the fingers and toes.
Adult↗
Craniofrontonasal dysplasia in two male sibs.
Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.
Abnormalities, Multiple↗
Joubert syndrome: a review.
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of these 94 patients. We propose a classification of the patients with this diagnosis in 2 groups: those with retinal dystrophy and those without. Retinal dystrophy runs true in families and was never absent when renal cysts were reported.
Abnormalities, Multiple↗
Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour.
Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.
Beckwith-Wiedemann Syndrome↗
Autosomal recessive microcephaly with severe psychomotor retardation.
Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcephaly with spasticity and severe mental retardation may also have autosomal recessive inheritance. Furthermore this severely affected group of patients forms a significant proportion of cases of genetic microcephaly. We looked for specific morphological features to identify these forms of genetic microcephaly for genetic counselling, but failed to find characteristic abnormalities among our group of patients.
Adolescent↗
Lethal congenital erythroderma: a newly recognised genetic disorder.
We report 4 patients and their extended families comprising 17 cases, all of whom had congenital exfoliative erythroderma resistant to treatment, associated with failure to thrive and hypoalbuminaemia. All died in the first year of life. This condition appears to be inherited in an autosomal recessive manner and the underlying defect remains unknown.
Consanguinity↗
Distal spinal muscular atrophy with vocal cord paralysis.
We describe a family with distal spinal muscular atrophy and vocal cord paralysis, similar to the condition reported by Young and Harper in 1980. Both pedigrees are consistent with autosomal dominant inheritance.
Adolescent↗
Cerebral arteriovenous malformation in Noonan's syndrome.
Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intellectual impairment and ptosis.
Adult↗