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PubMed1977

Intrauterine chronic subdural hematoma.

We discuss a newborn delivered by elective cesarean section who had macrocephaly with severe anemia. The anemia was corrected by exchange transfusion, and the infant, at first, appeared stable but manifested poor feeding and seizures. Transillumination of the skull was negative, although the anterior fontanel was tense. Computerized tomography demonstrated mild hydrocephalus and suggested subdural fluid. Bilateral subdural taps yielded fluid typical for chronic subdural hematoma. To our knowledge, this is the first documented case of intrauterine subdural hematoma developing in the absence of trauma. An analogy is made to the pathogenesis of subdural hematoma after rapid decompression of the ventricular system by shunting procedures for obstructive hydrocephalus.

Chronic Disease↗

PubMed1985

Neurologic manifestations of the organoid nevus syndrome.

Prominent neurologic abnormalities were observed in six patients with epidermal or linear sebaceous nevi (organoid nevi). These cases were remarkable for unilateral facial nevi, cognitive impairment, seizures, and focal or lateralized epileptic EEG abnormalities. Additional manifestations included the onset of seizures in the neonatal period, unilateral hypsarrhythmia or Lennox-Gastaut EEG pattern, hemiparesis, asymmetric macrocephaly, and somatic growth disturbances. The full expression of this disorder was not apparent at birth, but emerged gradually during infancy. The neurologic abnormalities in these patients were attributed to unilateral or asymmetric malformations of the CNS as demonstrated by computed tomography. A lateralized disorder of neuroectodermal proliferation, differentiation, and migration could account for both the cutaneous and neurologic abnormalities in this disorder. The striking clinical similarities in these patients suggest a close link between epidermal and linear sebaceous nevi.

Abnormalities, Multiple↗

PubMed1986

Neurologic correlates of osteogenesis imperfecta.

The neurologic status of ten patients with osteogenesis imperfecta (OI) was evaluated. Four patients with mild OI (type I) had normal neurologic findings and normal computed tomographic scans. Three of these four patients had macrocephaly. All six patients with severe OI (type III) had cortical atrophy on computed tomographic scan and three were also macrocephalic.

Adolescent↗

PubMed1986

Cavum vergae. Association with neurologic abnormality and diagnosis by magnetic resonance imaging.

Cavum vergae is a cavity posterior to the septum pellucidum whose clinical significance has previously been unclear. Ten children are described who presented with neurologic findings and were found to have a cavum vergae or cavum vergae and cavum septum pellucidum by brain computed tomographic (CT) scan. Of the ten patients, five had delayed development, four had macrocephaly, two had learning disabilities, two had abnormal electroencephalograms, and one had Apert's syndrome. No cases of cavum vergae were found in 50 children who had brain CT scans for head trauma. These observations suggest that cavum vergae is a nonspecific brain CT scan finding that can be associated with neurologic abnormality. The results of magnetic resonance imaging of one patient with cavum vergae are also described.

Brain↗

PubMed2002

Significance of planum temporale and planum parietale morphologic features in neurofibromatosis type 1.

BACKGROUND: Neurofibromatosis type 1 (NF-1) is associated with learning disabilities and cognitive impairment in childhood and adolescence. Individuals with NF-1 have a propensity for brain hyperintensities on T2-weighted magnetic resonance images, macrocephaly, and optic gliomas. Few clear relationships between these central nervous system abnormalities and cognitive function, however, have been found in this population. OBJECTIVES: To determine whether planum temporale (PT) and planum parietale (PP) morphologic features are associated with learning disabilities in NF-1. PATIENTS AND METHODS: We measured and compared the surface area, gray matter volume, and asymmetry of the PT and PP on T1-weighted MRIs from 24 children and adolescents with NF-1 and an equal number of controls. Relationships between these measurements and cognitive and academic achievement scores were examined. RESULTS: The left PT in boys with NF-1 was significantly smaller in both surface area and gray matter volume compared with girls with NF-1 and controls. Boys with NF-1 also showed greater symmetry between the left and right hemispheres in this region compared with girls with NF-1 and controls, who showed a pattern of left greater than right asymmetry of the PT. Intelligence-based discrepancy scores of reading and math achievement, which are commonly used to define learning disabilities, were significantly related to PT asymmetry in the NF-1 group as a whole. Less leftward asymmetry of the PT was associated with poorer reading and math achievement in relation to intellectual test scores. CONCLUSIONS: The high susceptibility of individuals with NF-1 to develop reading and other learning disabilities seems to be related to the development of the sylvian fissure. These results provide further support for the hypothesized association between sylvian fissure morphologic features and learning disabilities.

Adolescent↗

PubMed1984

Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome.

A male infant was evaluated with macrocephaly, scaphocephaly , a high forehead, a parietal foramen, a midline posterior occipital dermoid, and sloped shoulders. A skeletal survey also showed distal hypoplasia of the clavicles with bilateral loss of the acromion. Similar features were evident in his father, grandfather, and two paternal great-aunts. To our knowledge, this is the second report of this syndrome, which may be designated as parietal foramina-cleidocranial dysplasia. Our three-generation family and male-to-male transmission clearly established an autosomal dominant mode of inheritance for this syndrome.

Adult↗

PubMed1996

Elastic fiber degeneration in Costello syndrome.

Clinical and pathological observations of a 6-month-old-boy with Costello syndrome are reported. The main clinical findings were loose skin of the neck, hands, and feet, deep palmar and plantar creases, typical "coarse" face with thick lips and macroglossia, relative macrocephaly, mental retardation, short stature, arrhythmia, large size for gestational age, and poor feeding. At age 6 months he died of rhabdomyolysis. The major pathological findings were fine, disrupted, and loosely-constructed elastic fibers in the skin, tongue, pharynx, larynx, and upper esophagus, but not in the bronchi, alveoli, aorta, or coronary arteries. Hyperplasia of collagen fibers in the skin, hyperplasia of the mucous glands in the bronchus, narrowing of the pulmonary artery, degeneration of the atrial conduction system, calcification and ballooning of skeletal muscle fibers with infiltration of macrophages, and myoglobin depositions in the collecting ducts in the kidney were also observed. The degeneration of elastic fibers was confirmed in the skin of a second Costello syndrome patient. Expression of elastin mRNA in the patient's fibroblasts was normal in size and amount. Given that elastic fiber degeneration was observed in the tissues with clinical symptoms, we speculate that a defect of elastic fibers, possibly relating to alternative splicing in the elastin gene or to defects in elastin microfibrils, might be involved in the pathogenesis of Costello syndrome.

Abnormalities, Multiple↗

PubMed1996

Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).

A gene responsible for X-linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was localized to Xp21.1-p22.13 by linkage analysis. Recombination events placed the gene between DXS1226 distally and DXS1238 proximally, defining an interval of approximately 14 cM. A peak lod score of 2.71 was found with several loci in Xp21.1 (DXS992, DXS1236, DXS997, and DXS1036) at a recombination fraction of zero. The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. As none of these display the same phenotype seen in the family reported here, this X-linked mental retardation locus may represent a new entity.

Adolescent↗

PubMed1996

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

Fragile X DNA studies were carried out on all obligate carriers of a large fragile X family with 10 mentally retarded individuals. One 64-year-old carrier man with an altered FMR-1 allele was not described as being mentally retarded or as having any limitations in function. He was married, raised 8 children, and worked as an auto mechanic. On examination, he had macrocephaly and mild macroorchidism but few of the other typical physical findings of males with fragile X syndrome. His Full Scale IQ is 73, and his Vineland Adaptive Behavior Composite is 73. On the Woodcock-Johnson Psycho-Educational Battery-Revised, he achieved standard scores of 64 in Reading, 55 in Math, and 83 in Knowledge. His DNA findings showed a broad smear on Southern blot analysis of 100-500 CGG repeats and no methylation at the EagI site upstream of the FMR-1 protein coding region. His FMR-1 protein production is 12% of normal. His daughters all have large premutations, with somatic instability in the size of the CGG repeat lengths. They all have evidence of academic underachievement and 2 have physical characteristics frequently described in individuals with fragile X.

Blotting, Southern↗

PubMed1996

Proximal trisomy 1q in a girl with developmental delay and minor anomalies.

We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12-->q21.3). This abnormality was suggested by G- and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication.

Child, Preschool↗

PubMed1996

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.

Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn infant, who presented with macrocephaly, asymmetric square skull, minor facial anomalies, omphalocele, inguinal hernias, hypospadias, and club feet. The karyotype 46,XY,del(5) (pter --> p13::cen --> qter)/47,XY,+dicr(5)(:p13 --> cen::p13 --> cen), del(5)(pter --> p13::cen --> qter) was identified by banding studies and FISH analysis in the peripheral lymphocytes. One breakpoint on the del(5) maps distal to GDNF, and FISH analysis using an alpha-satellite probe suggests that the proximal breakpoint maps within the centromere. The dicentric r(5) consists of two copies of the segment deleted in the del(5), resulting in trisomy of proximal 5p (5p13-cen). The phenotype of the propositus is compared with other trisomy 5p cases and possible mechanisms for the generation of this unique chromosomal rearrangement are discussed.

Abnormalities, Multiple↗

PubMed1996

Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome?

We report on a 3-year-old boy with cartilaginous exostoses of the cranial sutures, rib hyperostosis, macrocephaly, metopic craniostenosis, epibulbar dermoid, hyperpigmented macules on the neck, focal fat deposition, and mild mental retardation with marked speech delay. Several of these manifestations were reported previously as an "unknown" by Thanos et al. [1977], with additional clinical information and a diagnosis of Proteus syndrome [Cohen, 1993].

Adipose Tissue↗

PubMed1997

The neuroimaging findings in Sotos syndrome.

We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midline abnormalities, 4) migrational abnormalities, and 5) others. The most common abnormality of the cerebral ventricles was prominence of the trigone (90%), followed by prominence of the occipital horns (75%) and ventriculomegaly (63%). The supratentorial extracerebral fluid spaces were increased for age in 70% of the patients and the fluid spaces in the posterior fossa were increased in 70% also. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prenatal or perinatal difficulties and unrelated to the basic condition, was the most common of the miscellaneous other abnormalities noted. The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly.

Abnormalities, Multiple↗

PubMed1997

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with mental retardation, the family, and medical care providers benefit from a focused clinical and laboratory evaluation aimed at establishing causation and in providing counseling, prognosis, recurrence risks, and guidelines for management. 2. Essential elements of the evaluation include a three-generation pedigree: pre-, peri-, and post-natal history, complete physical examination focused on the presence of minor anomalies, neurologic examination, and assessment of the behavioral phenotype. 3. Selective laboratory testing should, in most patients, include a banded karyotype. Fragile X testing should be strongly considered in both males and females with unexplained mental retardation, especially in the presence of a positive family history, a consistent physical and behavioral phenotype and absence of major structural abnormalities. Metabolic testing should be initialed in the presence of suggestive clinical and physical findings. Neuroimaging should be considered in patients without a known diagnosis especially in the presence of neurologic symptoms, cranial contour abnormalities, microcephaly, or macrocephaly. In most situations MRI is the testing modality of choice. 4. Sequential evaluation of the patient, occasionally over several years, is often necessary for diagnosis, allowing for delineation of the physical and behavioral phenotype, a logical approach to ancillary testing and appropriate prognostic and reproductive counseling.

Diagnosis, Differential↗

PubMed1998

Weaver syndrome: autosomal dominant inheritance of the disorder.

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affected with this condition, the syndrome generally occurs sporadically, and the recurrence risk in sporadic cases appears to be low. We report here on a family in which the propositus and his sister were born with the facial phenotype, club feet, and macrosomia characteristic of WS. Their father had macrosomia and macrocephaly as an adult, and childhood photos show clearly that he has WS. Two sisters of the propositus have had normal growth and development. The syndrome in this family appears to be inherited in an autosomal dominant fashion.

Craniofacial Abnormalities↗

PubMed1998

Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.

We identified 10 members of a single family with mental retardation and microcephaly, one member having macrocephaly instead. The pedigree was best compatible with the segregation of a small translocation, despite results of previous cytogenetic studies in several relatives being apparently normal. Eventually high resolution and fluorescence in situ hybridization studies in the parents allowed the detection of a balanced translocation between 5qter and 6qter, and of its unbalanced products in the offspring. The pertinent findings from the family are briefly compared with the clinical findings in patients from the literature with either a duplication or deletion of 5q35-ter, or a duplication or deletion of 6q27-ter.

Abnormalities, Multiple↗

PubMed1998

Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.

We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation. To the best of our knowledge, this is the first example of interstitial trisomy 7q21.2-->q22.1 reported. The syndrome is characterized by the presence of facial, oral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant; 2) lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with fetal pads, broad thumbs, and halluces.

Abnormalities, Multiple↗

PubMed1999

Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs.

We describe a sib pair with craniofacial anomalies, micrognathia, Mobius sequence, generalised myopathy, relative macrocephaly, and developmental delay. They appear to have the Carey-Fineman-Ziter syndrome (MIM 254940), which has been reported in only four children, a sib pair and two sporadic cases. This report on an additional affected brother and sister pair supports autosomal inheritance as the likely cause. These cases also confirm that scoliosis, talipes equinovarus, and a non-specific primary myopathy are important manifestations of Carey-Fineman-Ziter syndrome.

Abnormalities, Multiple↗