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PubMed1991

Ring chromosome 4 in a child with mild dysmorphic signs.

We report on an 8-year-old boy exhibiting microcephaly, clinodactyly and growth retardation. Chromosome analysis showed a ring chromosome 4 in 97% of the cells and a high number of hyperploid cells with various ring formations. The breakpoints are presumed to be close to or in the telomeric regions of both arms. The patients reported with ring chromosome 4 and breakpoints close to the telomeres of both arms showed unspecific, mild clinical findings with normal or retarded mental development. These signs are probably related to the continuous generation of aneuploid cells.

Abnormalities, Multiple↗

PubMed1991

An apparently new mental retardation syndrome in three elderly sisters.

Three elderly sisters with profound mental retardation in association with the clinical features of microcephaly, short stature, brachydactyly type D, flattened occiput, down-slanting palpebral fissures, low-set large ears, broad prominent nose and kyphoscoliosis have been investigated. Each was more than 60 years of age and their clinical features were strikingly similar. The disorder has several manifestations in common with Rubenstein-Taybi syndrome and appears to be inherited as an autosomal recessive in this family.

Abnormalities, Multiple↗

PubMed1993

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation.

Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris. Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia and the neonatal respiratory distress are the most typical characteristics of this mental retardation syndrome.

Abnormalities, Multiple↗

PubMed1993

Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16.

A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The proband has features similar to other reported cases with deletion of 6q1. The individuals with duplication of 6q14 to 6q16 have moderate mental retardation, short stature, obesity, microcephaly, brachycephaly, a short smooth philtrum, central hair whorl, simian creases, 5th finger brachydactyly and skeletal disproportion. In the 4-generation family, CCR carriers have a 20% empiric risk of phenotypically abnormal livebirths.

Adult↗

PubMed1993

Phenotype of 49,XXYYY.

A 7-year-old boy with 49,XXYYY karyotype is reported. Physical examination revealed facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age and moderate mental retardation.

Child↗

PubMed1994

Oligodontia, short stature and small head circumference with normal intelligence.

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported.

Adult↗

PubMed1996

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.

In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre- and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype.

Abnormalities, Multiple↗

PubMed1997

A case of de novo interstitial deletion of chromosome 5(q33q34).

The present paper describes a girl with a small de novo deletion of chromosome 5(q33q34). Fluorescence in situ hybridisation with locus specific probes was used to define the extent of this deletion. Clinical features in this patient are microcephaly, dysmorphic facial features such as epicanthus, small biparietal distance and retrognathia, four-finger lines on both hands and mild mental retardation.

Abnormalities, Multiple↗

PubMed1995

Predicting the outcome of symptomatic congenital cytomegalovirus infection.

The prognosis of babies with symptomatic congenital cytomegalovirus (CMV) infection is worse than for those with asymptomatic CMV, but is difficult to quantify. Babies affected as a result of primary maternal CMV are at greater risk than after reactivation CMV. Chorioretinitis occurs in 10-15% of symptomatic babies and almost always indicates significant mental impairment. Microcephaly occurs in around 50% at birth, but does not always persist, and does not necessarily imply later neurological handicap. Investigative findings that increase the likelihood of handicap include radiographic or computerized tomography scan finding of intracranial calcification and raised cerebrospinal fluid protein. Late deafness is always unpredictable and all babies with congenital CMV infection should have an audiological follow up. The mortality of symptomatic congenital CMV infection is about 30%.

Brain↗

PubMed1996

Neurodevelopmental profile of Down syndrome in Chinese children.

OBJECTIVE: To give an overall appraisal of the clinical features of Down syndrome (DS) in Chinese children with emphasis on the neurodevelopmental outcome, and to compare the related complications with that of other races. METHODOLOGY: The records of 124 Chinese children with DS assessed at the Child Assessment Centre of the University Department of Paediatrics in the Duchess of Kent Children's Hospital from 1985 to 1993 were reviewed. RESULTS: Thirty-one per cent of patients had microcephaly. Eighty-five percent (33/39) when assessed in the first year of life had a developmental quotient (DQ) above 50 but only 29% (2/7) had DQ above 50 when assessed after the age of 5. Only two patients (1.6%) had epilepsy: infantile spasms (1) and Lennox-Gastaut syndrome (1). Hearing impairment was found in 45% of children with mild conductive hearing impairment being the most common. CONCLUSIONS: Chinese children with DS, when compared with other races, were similarly intellectually disabled, but were less likely to develop epilepsy.

Adolescent↗

PubMed1996

De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].

OBJECTIVE: To report a new case of de novo 7q deletion distal to q35. METHODOLOGY: Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition. RESULTS: Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35). CONCLUSIONS: The phenotype of 7q terminal deletion is highly variable.

Abnormalities, Multiple↗

PubMed1985

Familial occurrence of oligomeganephronia.

Oligomeganephronia (OMN) is a rare, renal hypoplasia, consisting of a reduced number of hypertrophied nephrons. This disorder has been considered to be a congenital but not a genetic disease. We describe the first report, to the best of our knowledge, of familial cases of OMN; two male siblings ran rapidly downhill courses and died 11 and 8 days after birth, respectively. In addition, the two patients had similar multiple anomalies; microcephaly, prominent glabella, hypertelorism, antimongoloid slant, epicanthal folds, broad nose, cleft lip and palate, down-turned mouth, short philtrum, micrognathia, low set ears, hypospadias, and cryptorchism. Although the patients and the parents had normal G-banded karyotypes, 4p monosomy syndrome is suggested from clinical features. The implications of this are discussed briefly.

Abnormalities, Multiple↗

PubMed1977

Atelencephaly.

A 13 1/2-month-old boy with severe microcephaly was found to have nearly total absence of the telencephalon. The patient had marmorated skin, hypoplastic penis and undescended testes. Spastic tetraparesis was present. Moro, grasp and sucking reflexes were easily elicited. He could not sit or stand, but was able to raise and support his head. He had occasional convulsions and a tendency to hypothermia and vomiting. The EEG showed symmetrical low-voltage theta-delta activity. His psychomotor development was severely retarded. Bone age was normal. Head circumference was 28cm at six months and did not increase after this age. At autopsy the small cranial vault and meninges were found to be intact. Brain weight was 105g. The supratentorial part of the brain was extremely small, consisting of an irregularly lobulated mass about 3cm in diameter and without any median fissure or ventricular cavity. The telencephalon was severely involved and partly replaced by gliomesenchymal scar tissue, while the diencephalic structures, including the eyes and the optic nerves and chiasm, were comparatively well-developed. The cerebellum and brain stem were essentially intact.

Brain↗

PubMed1997

Relation of deranged neonatal cerebral oxidative metabolism with neurodevelopmental outcome and head circumference at 4 years.

Cerebral oxidative metabolism was studied using phosphorus magnetic resonance spectroscopy during the first week of life and neurodevelopmental outcome was assessed at 4 years in 62 infants who had clinical and/or biochemical evidence consistent with birth asphyxia (critically impaired intrapartum gas exchange). Twenty-one died and the neurodevelopmental status of the 41 who survived was assessed by a range of tests at age 4 years. The minimum recorded values for the cerebral phosphocreatine:inorganic phosphate concentration ratio (an index of oxidative metabolism) were related to outcome. The results showed significant relations between the extent of derangement of neonatal oxidative metabolism and a range of adverse outcomes, including death, and at 4 years reduced head growth and the presence and severity of neuromotor impairments, overall neurodevelopmental impairments, and cognitive functioning. Strong correlations between the extent of derangement of neonatal oxidative metabolism and outcome at 1 and 4 years were also shown. We conclude that the severities of adverse outcomes at 1 and 4 years of age were closely related to the extent of cerebral energy derangement in the first week of life, and we also conclude that primary intrapartum hypoxic-ischaemic cerebral injury was generally responsible for the events that led to death, microcephaly, and impaired

Asphyxia Neonatorum↗

PubMed1980

Early diagnosis of Meckel's syndrome.

Meckel's syndrome is a disorder of polygenic origin inherited as an autosomal recessive. The main features are microcephaly, occipital encephalocoele with associated midline facial defects, renal and limb anomalies. The diagnosis has previously been made ultrasonically by the repeated demonstration of small head size. In this instance a renal anomaly was demonstrated and use to confirm the diagnosis.

Abnormalities, Multiple↗

PubMed1995

Ichthyosiform eruption in a patient with Dubowitz syndrome.

Dubowitz syndrome is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, microcephaly, moderate mental retardation, typical craniofacial anomalies, and eczematous skin lesions. We report a case of Dubowitz syndrome associated with ichthyosiform skin changes.

Child, Preschool↗

PubMed1996

Predictors of intractable epilepsy in childhood: a case-control study.

Little is known about what factors predict intractable epilepsy at the time of initial diagnosis. We performed a case-control study to identify early predictors of medically intractable epilepsy in children. Cases were children who had an average of one seizure or more a month over a 2-year period and who, during that time, had failed trials of at least three different antiepileptic drugs (AEDs). Controls were children who had epilepsy, who had been seizure-free for > or = 2 years, and who had never, before becoming seizure-free, met the definition for intractable epilepsy. Strong univariate associations were noted between intractability and several factors: infantile spasms (IS) remote symptomatic epilepsy, a history of status epilepticus (SE) before the diagnosis of epilepsy, neonatal seizures, and microcephaly. Cases were significantly younger than controls at onset (1.8 vs. 5.8 years); this was not due solely to cases with onset during the first year of life but was an association apparent throughout the age range studied. With multiple logistic regression, independent predictors of intractability were IS, odds ratio (OR) = 10.42, p = 0.03; age at onset with a decreasing risk with increasing age, OR = 0.77 per year, p less than 0.0001; remote symptomatic epilepsy, OR = 2.24, p = 0.04; and SE, OR = 3.30, p = 0.04. These findings complement those of recent cohort studies of remission of epilepsy and provide useful leads for future prospective studies of intractable epilepsy.

Adolescent↗

PubMed1997

Fetal alcohol exposure and temporal vulnerability regional differences in alcohol-induced microencephaly as a function of the timing of binge-like alcohol exposure during rat brain development.

In humans, microcephaly (small head for body size) is a common feature of fetal alcohol syndrome. An analogous measure, termed microencephaly (small brain for body size), can be used for evaluating the detrimental effects of the differential timing of alcohol exposure on brain development in animal model systems. Timed-pregnant rats were exposed to binge-like alcohol during either the first 10 days (first trimester equivalent) or second 10 days of gestation (second trimester equivalent), or the combination of first and second trimesters equivalent for prenatal treatments. Offspring from some of the animals exposed to alcohol during the combined first and second trimesters equivalent were raised artificially from postnatal day (P) 4 through P9 (part of the third trimester equivalent), and also received binge-like alcohol during this period, producing animals that were exposed to alcohol during all three trimesters equivalent. Offspring from untreated dams were also raised artificially and received alcohol only from P4 to P9, thus creating animals that were exposed to alcohol only during part of the third trimester equivalent. All pups were perfused on P10. Appropriate controls (nutritional and normally reared) were used for every alcohol treatment combination. Peak blood alcohol concentrations were not different among the treatment groups for a given sampling time. Significant somatic growth deficits occurred in offspring exposed to alcohol for the equivalent of all three trimesters, compared with offspring exposed to alcohol during other periods. Brain growth in offspring also was significantly affected by the timing of alcohol exposure. The whole brain, forebrain, and cerebellum to body weight ratios of pups exposed to alcohol during the third trimester had more significant brain growth deficits than pups in groups exposed to alcohol during other times of brain development. Although alcohol exposure during the third trimester had a significant detrimental impact on overall brain growth, significant differences in temporal vulnerability were also found for the brainstem to body weight ratios. Offspring of dams exposed to alcohol during the first trimester had the same magnitude of deficit as those exposed to alcohol during the third trimester, and those two groups were significantly deficient compared with the groups exposed to alcohol at other times, suggesting some differential vulnerability of this region to alcohol-induced injury at different times of development. This study is the first thorough examination of microencephaly and gross regional vulnerability of the developing brain as related to temporal factors of alcohol exposure in an animal model system, and the results support and expand on the findings of the available clinical literature. Furthermore, our results substantiate claims that the cessation of alcohol before the third trimester can lessen the severity of some alcohol-related birth deficits.

Alcoholic Intoxication↗