To the best of our knowledge, no other similarly affected family has been presented in the literature. [ncbi.nlm.nih.gov]

• Poor Growth

  Subsequently, feeding difficulties with poor growth become more evident as the delayed milestones. Hypertonia, joint stiffness, and seizures develop rapidly, and most of the patients die in the first decade of life. [ncbi.nlm.nih.gov]

• Hyperlaxity

  The presenting clinical features consist of progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair, cutis laxa, and joint hyperlaxity. [ 46 ] PMSE [ 42 ] is linked to homozygous 7-kilobase deletion in LYK5, which encodes STE20 [ncbi.nlm.nih.gov]

• White Matter Lesions

  Brain MRI shows confluent subcortical white matter lesions that spread centrifugally with atrophy of the cerebellar vermis and involvement of dentate nuclei. [ 16 ] 4.2. [ncbi.nlm.nih.gov]

  CHARGE consortium: See ref. 40 for the general cognitive function GWAS, and ref. 29 for the white matter lesion GWAS. [dx.doi.org]

• Occipital Encephalocele

  We report the case of a male infant with Chiari malformation type I who presented with congenital hydrocephalus and occipital encephalocele that progressed to hydrocephalic macrocephaly with frontal skull defect, despite numerous cerebrospinal fluid diversion [ncbi.nlm.nih.gov]

Various surgical techniques of reduction cranioplasty for the treatment of these patients have been reported. [ncbi.nlm.nih.gov]

Treatment of macrocephaly depends on the cause. Sometimes, no treatment is necessary. If the cause is an abnormality, such as hydrocephalus, treatment, including surgery, may be necessary. NOTE: This is the Consumer Version. [msdmanuals.com]

Massive congenital intracranial teratoma is an extremely rare neoplasm with a poor prognosis. They grow rapidly and cause extensive destruction in the brain. Herein we report a massive intracranial teratoma causing skull rupture. [ncbi.nlm.nih.gov]

Prognosis For children with benign familial macrocephaly, the prognosis is excellent. These children usually do not have any complications and have normal intelligence. For other children with macrocephaly, the prognosis is dependent upon the cause. [healthofchildren.com]

Prognosis The outcome and prognosis depends on the cause. The prognosis is quite favorable in children with benign familial macrocephaly. [emedicine.medscape.com]

Prognosis: Familial macrocephaly: normal neurological development. Secondary macrocephaly: depends on underlying condition. Unilateral or bilateral megalencephaly: developmental delay and intractable seizures. [fetalmedicine.org]

These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. [ncbi.nlm.nih.gov]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

The epidemiology, perinatal risk factors, and major neurologic comorbidity of 42 children with hydrocephalus were studied in a community-based clinic for children with neurodevelopmental disabilities at the Institute for Child Development, Tel Aviv, Israel [pediatricneurologybriefs.com]

Epidemiology Macrocephaly is a relatively rare condition but has multiple etiologies, therefore the incidence and prevalence has not been documented by many studies. [emedicine.medscape.com]

The UCLA-University of Utah epidemiologic survey of autism: Prenatal, perinatal and postnatal factors. Pediatrics, 86, 514–519. Google Scholar Schopler, E., Reichler, R. J., & Renner, B. R. (1986). [link.springer.com]

ORPHA:137634 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: - ICD-10: Q87.3 OMIM: 613675 614192 UMLS: - MeSH: - GARD: - MedDRA: - Summary Epidemiology So far, it has been described in six families. [orpha.net]

Affiliations Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands. [dx.doi.org]

EEG-based endophenotypes could be useful to untangle the complexity of ASD, helping to establish anatomic or pathophysiologic subtypes of the disorder. [ncbi.nlm.nih.gov]

Soriano AL, Russell RG, Johnson D, Lago R, Sechter I, Morris JG Jr: Pathophysiology of Citrobacter diversus neonatal meningitis: Comparative studies in an infant mouse model. Infect Immun 1991;59:1352–1358. [karger.com]

Pathophysiology Macrocephaly can result from enlargement of the skull bones or an increase in the volume of the intracranial structures like cerebrospinal fluid, blood, or the brain parenchyma itself (megalencephaly). [emedicine.medscape.com]

The pathophysiology of propofol infusion syndrome: a simple name for a complex syndrome. Intensive Care Med 2003;29:1417-25. 37. Rossetti AO, Milligan TA, Vulliemoz S, Michaelides C, Bertschi M, Lee JW. [e-jnc.org]

Regular follow-up of the fetus may lead to early diagnosis of immature intracranial teratomas and prevent the mother from having further complications either due to intrauterine fetal death orpsychological trauma of giving birth to a heavily malformed [ncbi.nlm.nih.gov]

When there is a significant fluid buildup in the brain, which is called hydrocephalus, the underlying cause is likely to require treatment to prevent further problems. [medicalnewstoday.com]