A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
* Large head * Short arms * Clubfoot * Camptodactyly * Simian crease * Short stature * High nose bridge * Capillary hemangioma * Prominent forehead * Flat nose * Abnormal forearms * Large head * Short arms * Clubfoot * Camptodactyly * Simian crease * Short stature * High nose bridge * Capillary hemangioma * Prominent forehead * Flat nose * Abnormal forearms
* Communicating hydrocephalus –Benign –Post-hemorrhage –Postinfectious –Choroid plexus papilloma –Vein of Galen aneurysm * Noncommunicating hydrocephalus –Arnold-Chiari malformation –Aqueductal stenosis –Mass lesion –Primitive neuroectodermal tumor –Ependymoma –Astrocytoma –Abscess –Hemorrhage –Intraventricular –Subarachnoid o Increased brain size –Familial –Sotos syndrome –Neurofibromatosis type I (NF1) –Tuberous sclerosis (TS) –Incontinentia pigmenti –Globoid cell leukodystrophy (Krabbe) –Alexander disease –Canavan disease –Maple syrup urine disease –Tay-Sachs disease –Glutaric aciduria type II –Hurler syndrome o Increased bone –Anemia –Hyperphosphatemia –Rickets –Osteogenesis imperfecta o Neoplasm
Historyand physical exam provide important clues in diagnosis of macrocephaly. Age of child is important because hydrocephalusand anatomic causes of megalencephaly may be present at birth. Head circumference percentile shouldbe compared with height and weight percentiles using CDC growthcharts (2001). If weight, height, and head circumference are samepercentile and all are >3 standard deviations above meanfor age and gender, patient most likely is normal. Children whosehead circumference is out of proportion to other growth parametersshould be investigated. It is important to remember that inprotein-calorie malnutrition, normal head size may appear largewhen compared with body size. Combination of neuroimaging modalitiesis useful in diagnosis. Head U/S is usually performed initiallyin neonates and young infants. CT is preferred for trauma and acuteneurologic deficits. MRI is considered imaging procedureof choice for evaluation of neoplasms, certain vascular and hemorrhagiclesions, and inflammatory processes affecting brain. It is alsomore sensitive and specific than head U/S or CT for evaluationof brain malformations, myelination disorders, and neurodegenerativedisorders. Other investigations depend on suspecteddiagnosis from history, physical exam, and imaging findings.