Results 81 to 90 of about 11,012 (235)
Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure
Pediatrics and Neonatology, 2009 We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome.
Pen-Hua Su +5 more
doaj +1 more source
Molecular Testing in Holoprosencephaly
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018 Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades.
P. Kruszka, Ariel F. Martinez, M. Muenke
semanticscholar +1 more source
Human Mutation, 2018 Here, we applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 333 probands to rank their relative significance as causes for holoprosencephaly (HPE). We now show that comparisons of variant
E. Roessler +17 more
semanticscholar +1 more source
Prenatal Diagnosis, Volume 46, Issue 10, Page 1648-1654, September 2026.ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann +8 more
wiley +1 more source
Clinical features and outcomes of holoprosencephaly in Korea.
, 2010 The clinical spectrum of holoprosencephaly is broad, and its etiology is heterogeneous. To investigate the clinical spectrum of holoprosencephaly in Korea, we performed a database analysis of 55 cases of holoprosencephaly, including 12 diagnosed ...
Ko, JM +3 more
core +1 more source
ObgyniaIntroduction: Holoprosencephaly is a rare brain malformation caused by the failure of the prosencephalon to divide into separate cerebral hemispheres. Alobar holoprosencephaly, the most severe form, presents with a monoventricle, lack of interhemispheric
Aryani Aziz , Uqbah Abdul Salam
doaj +1 more source
Absent Labial Frenulum in Holoprosencephaly
, 1998 Absence of the superior labial frenulum is reported in 88% of 17 consecutive cases of holoprosencephaly examined at St Christopher’s Hospital for Children, Philadelphia ...
J Gordon Millichap
core +1 more source
Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters +17 more
wiley +1 more source
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
, 2015 Holoprosencephaly is a clinically and genetically heterogeneous midline brain malformation associated with neurologic manifestations including developmental delay, intellectual disability and seizures.
Kakar, N. +9 more
core +1 more source
The wide spectrum of ultrasound diagnosis of holoprosencephaly.
Medical ultrasonography, 2019 AIM Holoprosencephaly (HPE) is the most common brain malformation. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres.
C. Ionescu +8 more
semanticscholar +1 more source