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Aicardi Syndrome and Klinefelter Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for Aicardi syndrome include (i) microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR, in which chorioretinal changes do not involve peripheral and optic nerves, and neuronal migration defects are uncommon, whereas chorioretinal lacunae in Aicardi syndrome are central and involve the optic nerves, and neuronal migration defects are almost universal); (ii) oculocerebrocutaneous syndrome (OCCS, which may display orbital cysts and anophthalmia or microphthalmia, focal skin defects, polymicrogyria, periventricular nodular heterotopias, enlarged lateral ventricles, and agenesis of the corpus callosum, but predominant in males); (iii) tuberous sclerosis complex and Rett syndrome (which also shows infantile spasms); (iv) orofaciodigital syndrome type IX (OFD 9, which may show chorioretinal lacunae); (v) Goltz syndrome and microphthalmia with linear skin defects syndrome (which also have microphthalmia and other developmental eye defects, but differ from Aicardi syndrome by their characteristic skin defects and other features); (vi) Dandy−Walker syndrome, agenesis of the corpus callosum, neuronal migration disorders, Lennox−Gastaut syndrome, lissencephaly, West syndrome, and cyclin-dependent kinase-like 5 disorder, all of which may display seizure; and (vii) ocular toxoplasmosis (showing small or peripheral lacunae) [10].
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The Poland anomaly, of unilateral syndactyly and pectoral muscle aplasia, is an important form to recognise because it appears to be non-genetic in the great majority of cases, probably vascular in aetiology. Bilateral isolated syndactyly of hands and/or feet has several forms, all autosomal dominant. Important syndromes include the orofaciodigital syndrome type I (X-linked dominant, lethal in the male) and the acrocephalosyndactylies (see Chapter 17). Greig syndrome, cephalo poly syndactyly (autosomal dominant), combines syndactyly with polydactyly and skull abnormalities. The extreme fusion defect of the lower limbs, sirenomelia, is sporadic.
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
Meckel-Gruber syndrome, polysyndactyly and orofaciodigital syndrome are also all associated with polydactyly. Many syndromes are associated with syndactyly, including Apert’s, Carpenter’s, Cornetia de Lange, Holt-Oram, Laurence-Moon-Biedl, Fanconi’s and fetal hydantoin syndromes and trisomies 13, I8and2I.
An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article
Published in British Journal of Neurosurgery, 2022
Amr Ali Hasanain, Mohamed A. R. Soliman, Reem Elwy, Ahmed A. M. Ezzat, Sameh H. Abdel-Bari, Sascha Marx, Alistair Jenkins, Ehab El Refaee, Ahmed Zohdi
A subset of ciliopathies is commonly associated with intellectual disability and brain malformations that can include midbrain and/or hindbrain malformations, agenesis of the corpus callosum, and encephalocele. Neurological defects are a common finding in many ciliopathies, highlighting a critical role for primary cilia in brain development.40 Examples of these syndromes are such as Joubert syndrome, Meckel syndrome, Orofaciodigital syndromes, Bardet–Biedl syndrome, Hydrolethalus syndrome, Pallister–Hall, and Greig syndromes. Most of these syndromes are associated with hydrocephalus.40