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PubMed1977

Microcephaly in a normal school population.

Heights, weights, and head circumferences were obtained on 1,006 students, ages 5 to 18 years, attending regular classes in four schools in a suburban Seattle school district. From the 1,006 students initially examined, 19 (1.9%) had a head circumference two or more standard deviations below the mean for age and sex. Intelligence quotients and academic achievement scores were obtained on these children and compared with normal controls. No significant difference was found between mean IQs of the study subjects and the controls (99.5 vs. 105), but mean academic achievement scores were significantly lower in the study subjects (49 vs. 70; P less than .001). In addition, although mean IQs were not significantly different between those subjects whose head circumference was proportional and those whose head circumference was relatively small, mean academic achievement scores were significantly higher (60 vs 39; P less than .02) in those subjects whose head size was proportional.

Achievement↗
PubMed1979

[Recessive microencephaly linked to the X chromosome].

A family with X-linked recessive microcephaly is reported. As patients there were found 8 men or boys respectively out of 3 generations, all of them being related by their mentally healthy mothers. Besides microcephaly the patients showed growth retardation and obesity. Some of them, in addition, had various anomalies as inguinal or umbilical hernias, cryptorchism, tapering fingers, contractures, deeply rooted thumbs and club-feet. There were no hints for a metabolic defect or a chromosomal aberration. The dermatoglyphics could be investigated in 5 patients and showed in all of them a shifting of the axial triradius into the distal position t'. Comparing the own findings with case reports on X-linked microcephalies, the above mentioned family was found not to correspond to any of these observations. It is assumed that in this family, a new disease has occurred which until now has not yet been described, so that the X-linked microcephalies seem to be a heterogenous group of disease from the genetic point of view.

Adult↗
PubMed1978

Newborn head size and neurological status. Predictors of growth and development of low birth weight infants.

One hundred eighteen infants with birth weights of 2,000 g or less were evaluated for growth and development at approximately 5 years of age. Review of neonatal data indicated that head circumference less than the tenth percentile at birth and abnormal neurological examination in the newborn period were important predictors of outcome. Both of these factors were associated with poor growth, later microcephaly, and neurological deficit. In addition, neonatal microcephaly was substantially related to poor intellectual attainment. Other associations were seen between microcephaly at birth and intrauterine growth retardation, low Apgar score, and low socioeconomic status, factors that also correlated with poor outcome.

Apgar Score↗
PubMed2024

Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage.

The WD repeat-containing protein 4 (WDR4) has repeatedly been associated with primary microcephaly, a condition of impaired brain and skull growth. Often, faulty centrosomes cause microcephaly, yet aberrant cilia may also be involved. Here, we show using a combination of approaches in human fibroblasts, zebrafish embryos and patient-derived cells that WDR4 facilitates cilium formation. Molecularly, we associated WDR4 loss-of-function with increased protein synthesis and concomitant upregulation of proteasomal activity, while ubiquitin precursor pools are reduced. Inhibition of proteasomal activity as well as supplementation with free ubiquitin restored normal ciliogenesis. Proteasome inhibition ameliorated microcephaly phenotypes. Thus, we propose that WDR4 loss-of-function impairs head growth and neurogenesis via aberrant cilia formation, initially caused by disturbed protein and ubiquitin homeostasis.

Animals↗
PubMed2023

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well as more variable findings that include short stature, microcephaly, and facial dysmorphisms. A 4-year-old male with autism, developmental delay, microcephaly, and a happy demeanor underwent evaluation through the Undiagnosed Disease Network. He was clinically suspected to have Angelman syndrome; however, molecular testing was negative. Genome sequencing identified the H4 histone gene variant H4C5 NM_003545.4: c.295T>C, p.Tyr99His, which parental testing confirmed to be de novo. The variant met criteria for a likely pathogenic classification and is one of the seven known disease-causing missense variants in H4C5. A comparison of our proband's findings to the initial description of the H4-associated neurodevelopmental syndrome demonstrates that his phenotype closely matches the spectrum of those reported among the 29 affected individuals. As such, this report corroborates the delineation of neurodevelopmental syndrome caused by de novo missense H4 gene variants. Moreover, it suggests that cases of clinically suspected Angelman syndrome without molecular confirmation should undergo exome or genome sequencing, as novel neurodevelopmental syndromes with phenotypes overlapping with Angelman continue to be discovered.

Male↗
PubMed2026

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.

Asparagine synthetase deficiency (ASNSD) is a rare metabolic disease causing congenital microcephaly, severe developmental delay, and spastic quadriplegia. Although the central nervous system is severely affected, other organ systems appear unaffected by asparagine deficiency. We present an infant homozygous for the mutation c.904-1G>A in the ASNS gene, whose clinical presentation and radiological findings were typical for ASNSD. Following the patient's death at the age of 6 months, histological and immunohistochemical examination of the telencephalon revealed a vast disturbance of migration of neuronal subpopulations, consequently severe disorganization of cortical layers, and thinning of the cerebral cortex. These findings provide novel insights into disease pathogenesis and may explain the hallmark features of ASNSD, including microcephaly and epilepsy.

ASNS gene↗
PubMed2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

OBJECTIVE: To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). METHODS: This retrospective case series includes five prenatal cases with MOPD1. Diagnoses were established by prenatal ultrasound and genetic testing. Genome sequencing (GS) or targeted exome sequencing (ES) detected the variants either prenatally or after termination of pregnancy (TOP). Clinical data including parental demographics, ultrasound findings, and pregnancy outcomes were collected. RESULTS: All fetuses presented with consistent anomalies on ultrasound including intrauterine growth restriction (IUGR), microcephaly, agenesis of the corpus callosum (ACC), intracranial cysts, lissencephaly, and micrognathia. IUGR was the earliest anomaly detected in all five cases. Prenatal ultrasound findings suggestive of skeletal dysplasia were identified in one case. All cases carried biallelic pathogenic RNU4ATAC variants associated with MOPD1. TOP was chosen in four cases. One fetus was delivered at 39 + 1 weeks with genetic diagnosis confirmed at 27 weeks. CONCLUSION: IUGR, microcephaly and ACC can be detected in fetuses with MOPD1 at around 18 weeks of gestation. Interestingly, skeletal dysplasia was not a consistent prenatal finding. Variants in the non-coding RNU4ATAC gene need to be detected by GS or targeted approaches beyond standard ES.

Humans↗
PubMed1978

Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

A girl observed from birth to age 16 months had multiple congenital anomalies including growth and developemental retardation, microcephaly (-4SD), bulbous nose, prominent lips and philtrum, esotropia, latent hypermetropia, and spasticity. Chromosome analysis showed her to be a balanced carrier of a t(8;9)(q12;q33)pat translocation. In addition, she had a de novo deletion of a distal segment of the long arm of chromosome 7. Seven previously reported cases with deletions involving 7q were reviewed and had a number of nonspecific features in common, with microcephaly of a comparable degree in one of these. Studies of the Kidd (Jk) blood groups and Hageman factor were done because of the tentative assignment of their respective loci to distal 7q. Location of the Kidd (Jk) locus on the deleted segment can be excluded on the basis of heterozygosity of the proposita for the a and b alleles. Hageman factor was not decreased, which suggests that this locus is also not on the deleted segment.

Abnormalities, Multiple↗
PubMed1979

Ring chromosome 6: case report and review of literature.

A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6.

Child, Preschool↗
PubMed1977

[Children of mothers with phenylketonuria (author's transl)].

Microcephaly and considerable motor and mental retardation occurred in two non-phenylketonuric children of an untreated mother with phenylketonuria. The cerebral damage of the children must be considered the consequence of the maternal metabolic disorder. Since the first phenylketonuric children who were treated on strict diet are now reaching the age of marriage and pregnancy, the problem of maternal phenylketonuria is becoming topical. Published reports indicate that of 72 well documented cases with a maternal phenylalanine level above 200 mg/1 (1210 mumol/1) 39 offspring had microcephaly, in 33 intra-uterine growth had been retarded and in 25 there are cerebral palsy and seizures. Almost all had mental retardation. At the same time there have been reports about three normal children whose mothers had kept to a phenylalanine-low diet during their pregnancy.

Adolescent↗
PubMed1978

[Combined transplacental carcinogenic action of N-nitrosomethylurea (NMU) and N-nitrosoethylurea (NEU) in rats].

To reveal the relationship between teratogenesis and carcinogenesis, the author studied brain blastomogenesis features against the background of the development of deformities induced by the combined transplacental effect of NMU and NEU. To induce brain defects such as microcephaly NMU was injected on the 15th day, whereas to induce cerebellar defects- on the 21st day of embryogenesis. Moreover, at the 13th or 17th day NEU was additionally injected, which is found to be highly effective for inducing brain tumors. It was found that in NMU exposure (at the 15th day) until NEU exposure (at the 17th day of embryogenesis) no reliable decrease in brain tumor occurrence was noted, compared with that if only NEU was employed. In the reverse sequence, i. e. first the exposure to NEU (at the 13th day) and then to NMU (at the 15th day) the occurrence of tumors located in cerebral hemisphers was 3 times less. It is assumed that cytotoxic effect of NMU leading to microcephaly is likely to cause the death of a considerable amount of cell population previously transformed.

Animals↗
PubMed2026

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long-term follow-up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in XRCC2. Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Unlike in FA, DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected until the age of 19 and 20 years, respectively. Our report suggests that the homozygous p.(Arg215Ter) variant in XRRC2 causes a distinctive FA-like disorder, characterized by the typical physical characteristics seen in FA, but a lack of major hematological manifestations in childhood, and the presence of a more pronounced neurodevelopmental phenotype than that seen in FA.

Humans↗
PubMed1978

The Dubowitz syndrome.

The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance, high-pitched hoarse voice, and borderline intelligence or mild mental retardation. Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects. The 13 cases reported in the European literature and eight personally examined patients are reviewed.

Abnormalities, Multiple↗
PubMed1979

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povysilova et al [3]. The above-mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym "the Neu-Laxova syndrome." Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu-Laxova syndrome is apparently transmitted as an autosomal recessive trait.

Abnormalities, Multiple↗