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PubMed1998

The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.

We present the clinical history and findings in 4 children and adolescents with the association of macrocephaly and cutis marmorata telangiectatica congenita (Macrocephaly-CMTC syndrome). This syndrome has recently been delineated within the general group of patients with manifestations of cutis marmorata telangiectatica-Klippel-Trenaunay-Weber syndrome as a clinically recognisable entity.

Adolescent↗
PubMed1980

Macrocephaly with head growth parallel to normal growth pattern: neurological, developmental, and computerized tomography findings in full-term infants.

Fifteen infants with macrocephaly had a head growth pattern parallel to 2 SDs above normal. In eight patients with initial and subsequent normal findings on neurological and developmental examinations, computerized tomography (CT) showed slight ventricular dilation and increased width of the subarachnoid space anteriorly. The other seven patients had abnormal results from neurological or developmental examinations. The CT findings in two were similar to those in the first group; in four, other abnormalities were observed; and one had a normal scan. None of the 15 infants required shunting. In infants with this head growth pattern, a similar CT scan with ventricular dilation and widened subarachnoid space could be found in patients with normal or abnormal results from neurological and developmental examinations. Those infants with this CT scan pattern and normal neurological and developmental findings appear to have a benign condition.

Cephalometry↗
PubMed1980

Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly.

We describe two brothers with endocardial fibroelastosis, unusual facial appearance, and cryptorchidism. The surviving brother has mental retardation, seizures and possible hypothalamic dysfunction. Both brothers have a head size greater than two standard deviations above normal; this appears to be related to superimposed presence of coincidental autosomal dominant macrocephaly in this family.

Cryptorchidism↗
PubMed1989

Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation.

A number of more or less distinct subgroups with the Pena-Shokeir phenotype have been identified. We studied two brothers with the Pena-Shokeir phenotype who were unusual because they had macrocephaly and normal growth. In the second sib, no neuromuscular abnormalities were found at autopsy. Among the subgroups with Pena-Shokeir phenotype, these sibs resemble the family reported by Ohlsson et al. [1988] more than the other subgroups that have been proposed. In addition, abnormalities were detected by prenatal ultrasonography during the 18th week of gestation of the second fetus. This finding provides additional evidence that this phenotype may be detected early enough in gestation to consider intervention.

Abnormalities, Multiple↗
PubMed1989

Slowly progressive macrocephaly with hamartomas: a new syndrome?

We report on an 8 1/2-year-old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan-Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.

Abnormalities, Multiple↗
PubMed1994

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 (theta = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697-705).

Adult↗
PubMed1994

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.

Adult↗
PubMed1995

New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.

We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.

Abnormalities, Multiple↗
PubMed2001

Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?

Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei. The reduced white matter showed patchy periventricular signal intensity changes. The lateral and third ventricles were large, but the fourth ventricle was of normal size. The boys had large cisterna magna, communicating widely with the fourth ventricle, but no vermian hypoplasia. Both boys had Lennox-Gastaut spectrum type epilepsy. No chromosomal anomalies were found, despite the suggestive clinical picture. Some of the clinical findings resembled fetal alcohol effects/fetal alcohol syndrome (FAE/FAS), which was also suggested by history. Current diagnostic criteria for FAE/FAS, however, excluded full-blown FAS in these cases and failed to explain the entire clinical picture in the boys. We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure.

Abnormalities, Multiple↗
PubMed2005

A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature.

We report a young man with intrauterine macrosomia, macrocephaly, and bony abnormalities. Excessive growth continued throughout infancy and childhood. Bone age was advanced. He developed contractures of the large joints and was confined to a wheelchair. Extensive laboratory studies, repeated on multiple occasions were all normal. Intellectually, he was normal. His near final height was 234 cm. The constellation of findings in this patient is at variance with previously described syndromes of tall stature. We postulate that excessive size and bone overgrowth in this young man is caused by a receptor/post-receptor abnormality involving a growth on/off mechanism at the cellular level.

Abnormalities, Multiple↗
PubMed1988

The value of estimating pressure-volume index in childhood macrocephaly. The relationship between pressure-volume index and the volumes of intracranial structures.

In this study on cerebrospinal fluid (CSF) dynamics in childhood macrocephaly, we investigated the relationship between the pressure volume index (PVI) and the volume of various brain structures. The most important variables of CSF dynamics are the outflow resistance (Ro) and the PVI. We applied a constant CSF infusion rate to measure the PVI. The volumes of intracranial structures were calculated by means of computed tomography. Our study revealed no significant correlation between PVI and CSF volume or between PVI and the intracranial volume, as suggested by earlier studies. We did, however, find a significant correlation between PVI and ventricle volume. These results indicate that in order to estimate PVI for clinical purposes, the ventricle volume rather than CSF volume or head circumference should be used.

Brain↗
PubMed1982

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.

A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensated metabolic acidosis and mild hypoglycemia. Therapy with a leucine restricted diet decreased excretion of metabolites moderately but did not influence the tendency to metabolic acidosis. Clinically the infant presented with macrocephaly. At the age of 3 years she is severely retarded. CAT scan revealed the picture of progressive demyelination of the white matter.

Acidosis↗
PubMed1983

The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a 'new' syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this 'new' syndrome.

Abnormalities, Multiple↗
PubMed2006

Idiopathic macrocephaly in the infant: long-term neurological and neuropsychological outcome.

RATIONALE: The long-term outcome of idiopathic macrocephaly is presently unknown. METHODS AND RESULTS: In the current study (n=15), MRI conducted at long-term review showed regression of orbito-frontal extradural collections and normal or slightly enlarged ventricular space compared to infant examination. Head circumference had normalised in all but one participant. Neuropsychological assessments of nine participants showed general intellectual ability within the normal range in the majority of participants; however, specific deficits in attention were evident. Clinical interviews conducted with a smaller sub-group revealed anecdotal histories of behavioural difficulties and reading or arithmetic difficulties in half of the total sample. CONCLUSIONS: Prospective review studies such as this indicate that abnormal radiological findings in infancy are not necessarily predictive of neurodevelopmental problems and may reflect a normal variant. However, while overall intellectual ability may be within average limits in this diagnostic sample, considerable individual variations remain in specific areas of neuropsychological function.

Brain Diseases↗
PubMed2005

De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.

We have applied FISH with fully integrated BACs and BAC subfragments assessed in the human genome sequence to a de novo t(7;10)(q33;q23) translocation in a patient with developmental delay and macrocephaly. The translocation breakpoints disrupt the SEC8L1 gene on chromosome 7 and the PTEN gene on chromosome 10. RT-PCR demonstrated chimeric transcripts containing the first 11 exons of SEC8L1 fused to exon 3 of PTEN. In addition to the balanced translocation, we found a 7-Mb deletion in the translocated part of chromosome 7 at 4-Mb distance of the translocation breakpoint. This microdeletion, which disrupts the PTN and TPK1 genes and deletes 29 bonafide genes and the T-cell receptor beta locus, arose in the paternal germline. The patient's phenotype may be caused by a dominant-negative effect of the SEC8L1-PTEN fusion protein and/or haploinsufficiency of the disrupted or deleted genes. Our study demonstrates that de novo translocations can be associated with microdeletions outside the breakpoint region(s), rendering the study and risk estimation of such breakpoints more complicated than previously assumed.

Abnormalities, Multiple↗
PubMedDate not supplied

Duplication 8 [inv dup(8)(p12p23)] with macrocephaly.

A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects. Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development.

Cerebral Ventricles↗
PubMed1975

Slow tremor and macrocephaly: expanded version of the bobble-head doll syndrome.

The clinical features of three children in whom a slow tremor involving the head, trunk, or limbs was associated with macrocephaly are presented. The findings were similar but not identical to those previously reported in four children with the bobble-head doll syndrome. These seven children have many of the signs and symptoms found in patients with surgically or spontaneously arrested hydrocephalus, including motor incoordination, behavior and psychologic deviations, and endocrine dysfunction. The tremor which can be voluntarily inhibited and which disappears following shunt surgery, is unique. The theoretical basis for the tremor is briefly discussed.

Abnormalities, Multiple↗