PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Microcephaly”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 397 records · Page 22Linked to original sources
PubMed1977

A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.

A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested.

Adolescent↗
PubMed1996

[Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome].

The Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, which belongs to the family of genetically determined instability syndromes and to the growing category of ataxia telangiectasia (AT)--related disorders. The main manifestations include pronounced microcephaly with mental retardation in most patients, "bird-like" facies, growth retardation, immunodeficiency, chromosome instability with multiple chromosome 7 and 14 rearrangements, hypersensitivity to ionizing radiation and normal AFP level. In light of high predisposition to malignancy, an accurate diagnosis is very important for the patient.

Abnormalities, Multiple↗
PubMed1996

Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.

We report a boy who shows a severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, arched eyebrows, mild ptosis, short nose with raised basis, large tip and anteverted nares, long, smooth philtrum, narrow mouth with down turned corners, very large, backward tilted ears, with a prominent lobule, retrognathism and very small and widely spaced, although normally shaped teeth. Vesicoureteral reflux was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotype which share some resemblance to mild Cornelia de Lange and Kabuki syndromes.

Adult↗
PubMed1997

Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.

We describe three brothers from a non-consanguineous family with microcephaly, mental and physical retardation, speech disorder, facial anomalies, and internal hydrocephalus in two of the three affected brothers. The youngest brother died at the age of 5 months. He had situs abdominalis inversus, ASD II, and had been operated for internal hydrocephalus and atresia of the biliary duct. A search in the Oxford Medical Database Dysmorphology Program suggested phenotypic similarities with two sisters described in 1972 by Osvaldo Mutchinick in Argentina. Although differences in their phenotypes exist, it is possible that the two sets of sibs represent the same, rare syndrome. This interpretation is supported by the origin of both families from the same geographic region.

Abnormalities, Multiple↗
PubMed1998

Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?

We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia of distal phalanges of 2-5th toes, with tiny toenails, and aplasia or nails of 5th fingers and right 5th toe in the younger sister. Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. Their ears were low-set and malformed. The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. They had some clinical features of Coffin-Siris syndrome, but with a milder phenotype and much less severe mental handicap. Their clinical picture resembles more the brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome.

Abnormalities, Multiple↗
PubMed1998

Oligodontia, microcephaly and facial dysmorphia syndrome.

Congenital absence of third molars is common. However absence of the other permanent teeth is relatively rare. Absence of teeth may be isolated or associated to other features. We had the opportunity to examine a girl with oligodontia associated to microcephaly, to facial dysmorphia and to short stature.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus.

We report on the prenatal diagnosis, genetic studies, and pathology of a case with de novo isochromosome 13q. A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly. Level II ultrasonograms further demonstrated alobar holoprosencephaly, hypotelorism, polydactyly, a ventricular septal defect, and a single nostril. A diagnosis of cebocephaly was made. Genetic amniocentesis and cord blood sampling revealed translocation trisomy 13 with a de novo t(13q13q) rearrangement. Chromosomal analysis using G- and C-banding techniques and fluorescence in situ hybridization (FISH) showed an apparent monocentric isochromosome. Molecular analyses using polymorphic molecular markers showed that the rearrangement was consistent with an isochromosome of maternal chromosome 13q[46,XX,i(13)(q10)]. Necropsy confirmed cebocephaly and the prenatally detected anomalies.

Adult↗
PubMed2002

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5-year-old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.

Abnormalities, Multiple↗
PubMed1994

Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance.

We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre- and post-natal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMed2003

Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy.

We describe two sibs with postnatal-onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. The combination appears to constitute a previously undescribed syndrome inherited in an autosomal recessive pattern.

Abnormalities, Multiple↗
PubMed2026

RETRACTION: Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

C. Del Greco, M. E. Kuo, D. E. C. Smith, M. I. Mendes, G. S. Salamons, M. Nemcovic, R. Kodrikova, S. Sestak, M. Stancheva, and A. Antonellis, "Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype," Molecular Genetics & Genomic Medicine 13, no. 2 (2025): e70078, https://doi.org/10.1002/mgg3.70078. The above article, published online on 18 February 2025 in Wiley Online Library (https://onlinelibrary.wiley.com/), has been retracted by agreement between the authors; the journal Editor-in-Chief, Paraminder Dhillon; and Wiley Periodicals, LLC. The retraction has been agreed upon due to the lack of appropriate authorization for the publication of the CARS1 variants related to the specific patient described in this clinical report. In addition, written consent for publication was not obtained from the child's legal guardian.

Journal Article↗
PubMed1987

Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly.

This is the first detailed report of the craniofacial anatomy of atelencephaly. Comparisons were made with a control specimen and others with holoprosencephaly, anencephaly, and anencephaly with holoprosencephalic facial features. In the atelencephalic fetus, severe microcephaly, flattened calvaria, and partial synostosis of the metopic suture were apparent. The cranial fossae were much smaller than usual; lesser wings of the sphenoid were folded into a rounded basal mass. Facial features were pronounced, and orbits were hyperteloric, lowset, and rounded. Ethmoidal cartilages, nasal bones, and maxillary structures were distorted and elongated. The secondary palate was displaced inferiorly and cleft. Because major components of the craniofacial complex were generally present, although misshapen, changes in the atelencephalic skull seem to be deformations rather than malformations. Differences in the cranial morphology of associated disorders--holoprosencephaly and anencephaly--can be construed as aberrations of separate developmental fields. Relationships between atelencephaly and these fields are unclear.

Abnormalities, Multiple↗
PubMed2004

Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.

Universal screening introduced in the 1960s has reduced the incidence of learning disability resulting from phenylketonuria (PKU), which is a treatable condition. Nonetheless, PKU may still be having an impact on the paediatric-age population. We report a woman with previously undiagnosed PKU who was born before the onset of universal screening. She is of normal intelligence, and so the diagnosis was not suspected until after the birth of her three children. Her serum phenylalanine concentration was found to be in excess of 1 mmol/L, well into the toxic range. She has had three sons, all of whom have a significant degree of learning disability resulting from intrauterine exposure to toxic levels of phenylalanine. None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis. We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.

Adult↗
PubMed1970

Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations.

Two unique cases of the syndrome of absent abdominal muscles with central nervous system involvement are presented. Microcephaly, polymicrogyria, and cerebellar heterotopiae were present in both. In case 1 there was also absence of the corpus callosum and agenesis of the cerebellar vermis. In case 2 a count of anterior horn cells in the spinal cord showed a reduction of approximately 50% in the lower thoracic region. The pertinent literature is briefly discussed. The findings in the nervous system suggest that the syndrome is the result of defective embryogenesis during the first trimester.

Abdominal Muscles↗
PubMed1999

Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.

We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. Autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.

Abnormalities, Multiple↗