Results 111 to 120 of about 5,787 (168)

Complete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting. [PDF]

Radiol Case Rep
Dusuri E, Asante CG, Gyamfi BA, Nartey ET, Amaning OA, Arkorful J.   +5 more
europepmc   +1 more source

The Brain-Face Connection in Holoprosencephaly: Case Report and Literature Review. [PDF]

Curr Health Sci J
Stancioi-Cismaru AF, Dita FG, Pana RC, Dinu M, Cioponea MA, Robu RM, Capitanescu RG, Sirbu OC, Andreiana BC, Tudorache S.   +9 more
europepmc   +1 more source

Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review. [PDF]

Epidemiologia (Basel)
Gonzalez-Fernandez MD, Jiménez-Gil K, Garcés-Ramírez L, Martínez-Juárez A, Moreno-Verduzco ER, Solís-Paredes JM, Pérez-Durán J, Torres-Torres J, Monroy-Muñoz IE.   +8 more
europepmc   +1 more source

Prenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review. [PDF]

Radiol Case Rep
Aneja K, Krishnan S.
europepmc   +1 more source

Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures. [PDF]

Radiol Case Rep
Barman P, Mishra GV, Murugan G, Priyadarshee P, Wanjari M, Sood A.   +5 more
europepmc   +1 more source

Genetic and clinical features of microcephaly in a prenatal cohort. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Liu H, Yin A, Jiang X, Tang L, Liu S, Qin X, Zhong M, Huang C, Jia B.   +9 more
europepmc   +1 more source

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Pediatr Neurosurg
Buccilli B, Hussein A, Taghlabi KM, Mitchell M, Haddad Santos D, Bertani R, Paiva W, Anghinah R, Faraji AH.   +8 more
europepmc   +1 more source

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Mutations in holoprosencephaly

Human Mutation, 2000
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. In holoprosencephaly the cerebral hemispheres of the brain fail to separate into distinct left and right hemispheres. This malformation is due to the improper specification and formation of the forebrain during early development.
Deeann Wallis, Maximilian Muenke
exaly   +3 more sources