Hoyeraal-Hreidarsson Syndrome
We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov]
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[ncbi.nlm.nih.gov]
Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental[link.springer.com]
Dysequilibrium Syndrome
From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org]
cerebellar ataxia associated with cerebellar hypoplasia.[ncbi.nlm.nih.gov]
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[ncbi.nlm.nih.gov]
Lissencephaly
A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov]
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org]
Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH).[ncbi.nlm.nih.gov]
Dyskeratosis Congenita
hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov]
hypoplasia More severe disorders and complications include The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable[afdc.asso.fr]
The original descriptions of HH all included cerebellar hypoplasia [ 13 - 15 ], and we suggest that documentation of cerebellar hypoplasia ( Figure 2 ) is required to make[ncbi.nlm.nih.gov]
Arnold-Chiari Malformation Type 1
hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation[radiopaedia.org]
Type IV is a form a cerebellar hypoplasia.[hon.ch]
[…] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be[radiopaedia.org]
Aprosencephaly and Cerebellar Dysgenesis
This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org]
hypoplasia.[link.springer.com]
Hypoplasia And Distinctivefacial Appearance Microcephaly, Autosomal Dominant Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy Midline Malformations[familydiagnosis.com]
PHACE Syndrome
We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.[ncbi.nlm.nih.gov]
The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%).[ncbi.nlm.nih.gov]
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum .[journals.sagepub.com]
Congenital Merosin-Positive Muscular Dystrophy
The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[ncbi.nlm.nih.gov]
Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8[tiptiktak.com]
hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation[mrineonatalbrain.com]
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly[rarediseases.info.nih.gov]
Dandy-Walker Syndrome
hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com]
Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients.[ncbi.nlm.nih.gov]
Magnetic resonance imaging showing Dandy-Walker malformation of the cerebellum, a large cerebrospinal fluid collection in the posterior fossa (A), marked cerebellar hypoplasia[academic.oup.com]