WebLow-set posteriorly located ears or overfolded helices; High nasal bridge; Highly arched palate, cleft lip, or cleft palate; Eyes Keratoconus; Downslanting palpebral fissures; Blepharoptosis, hypertelorism, or ophthalmoplegia; Retinopathy; Short neck, fused cervical vertebrae, and pterygia; WebTownes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently …
Osteopathia striata with cranial sclerosis: a new case ... - Nature
WebA helix (/ ˈ h iː l ɪ k s /) is a shape like a corkscrew or spiral staircase.It is a type of smooth space curve with tangent lines at a constant angle to a fixed axis. Helices are important in … WebHuman Phenotype Ontology. Overfolded helix. A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free … mn dhs directory
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WebFeb 23, 2024 · Harms et al. (2024) reported 10 patients from 9 unrelated families with global developmental delay, intellectual disability, and speech delay apparent from infancy. The … WebFeb 1, 2012 · Physical examination showed dysmorphic features including low-set dysplastic ears with thick overfolded helices and large lobes, strabismus, prominent nasal ridge and … WebAug 31, 2024 · Abnormal hair patterning with frontal upsweep and additional whorls, eyebrow abnormalities comprising broad, arched, and sparse or thick eyebrows, underdeveloped alae nasi, smooth philtrum, and low-set ears with overfolded helices facilitate a gestalt diagnosis. (Guran et al., 2024; Altunoglu et al., 2024). mn dhs employment services manual