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Clinical practice guideline for aniridia. [PDF]

open access: yesJpn J Ophthalmol
Research on rare and intractable diseases   +2 more
europepmc   +1 more source
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Pontocerebellar hypoplasia

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes.
Sabine, Rudnik-Schöneborn   +2 more
openaire   +2 more sources

Hemipalatal Hypoplasia

Journal of Craniofacial Surgery, 2009
Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
openaire   +2 more sources

Lobar hypoplasia

European Respiratory Journal, 1991
Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona   +5 more
openaire   +2 more sources

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