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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

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OBJECTIVE Megalencephaly (MEG) or enlarged brain occurs as a mild familial variant with normal brain structure, but otherwise is an uncommon human brain malformation that may be associated with significant developmental and neurological problems. It has been classified into anatomic and metabolic

Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.

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Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the

Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.

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Combined pituitary hormone deficiency (CPHD) can cause a broad spectrum of health problems, ranging from short stature only, to convulsions or even death. In the majority of patients, the cause is unknown.The idex case had unexplained CPHD, pituitary

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

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Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital

Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

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A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth

Megalencephaly and polymicrogyria with polydactyly syndrome.

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We report the clinical manifestations of a 26-month-old Japanese girl with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. She was born to healthy, nonconsanguineous parents at 37 weeks by caesarian section after prenatal ultrasonography suggested hydrocephalus. Macrocephaly and

Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly.

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An entity including gelastic epilepsy, precocious puberty, polydactyly and a hypothalamic hamartoma type IIa is described in a 16-year-old female patient. Polydactyly was detected at birth, she developed precocious puberty at four years of age, and gelastic epilepsy was diagnosed at age seven. The

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

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Pallister-Killian syndrome (PKS) is a rare disorder presenting with developmental delay, numerous dysmorphic features, and skin pigmentation anomalies. It is caused by mosaic tetrasomy of the short arm of chromosome 12. In most instances, tetrasomy is due to a supernumerary isochromosome i(12)(p10).

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

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BACKGROUND Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign'), developmental delay, abnormal eye movements and abnormal breathing pattern. Retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly are variably present,

[A case of hypothalamic hamartoma with gelastic seizures, precocious puberty, poly- and syndactyly].

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We reported a 6-month-old boy, patient of hypothalamic hamartoma with a rare association of poly- and syndactyly, which developed gelastic seizures and precocious puberty. His birth was complicated by poly- and syndactyly in both hands and polydactyly in both feet, but other physical signs were

Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.

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A male infant was born by emergent caesarean section at 39 weeks gestational age secondary to maternal and fetal distress. Initial physical examination was notable for macrocephaly (greater than+2SD), postaxial polydactyly of the hands and facial dysmorphism. Head imaging demonstrated diffuse

Asymptomatic large hypothalamic hamartoma associated with polydactyly in an adult.

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A hypothalamic hamartoma is a congenital tumor-like neural malformation. It is usually seen in children and is associated with neuroendocrinological symptoms, seizures, or psychological impairments. An asymptomatic hypothalamic hamartoma in an adult is extremely rare. This report describes an

MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

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The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn

Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly.

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We present a four year old boy with short stature, disproportionate microcephaly, developmental delay, convulsions, bilateral cleft lip and palate, and bifid right thumb.

A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.

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Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome

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