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3q13.31 Microdeletion Syndrome
lips.[ncbi.nlm.nih.gov]
OMIM : 57 The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal[malacards.org]
[…] the emerging syndrome include development delay, hypotonia, high-arched palate, increased occipitofrontal circumference and distinctive facial features; short philtrum and protruding[asdgconference.com]
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Acrocallosal Syndrome
lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly[ncbi.nlm.nih.gov]
[…] year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding[ncbi.nlm.nih.gov]
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Setleis Syndrome
lips.[grantome.com]
The lips turn down and protrude forming a horizontal shelf above and a groove below. The lower lip is espe- cially thick laterally where it fails to taper.[documents.tips]
[…] deficiency of the eyebrows and outward, double-row eyelashes, wrinkling of facial skin, a bulbous nasal tip and nasal septum which extends below the alae nasi and thick protruding[grantome.com]
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Multiple Endocrine Neoplasia Type 2A
[…] and tongue Distinctive facial features, including an elongated face and protruding lips A tall and slender body type Medullated corneal nerve fibers (abnormal nerves in the[stjude.org]
[…] hyperplasia Multiple endocrine neoplasia type 2B is suspected when a person has medullary thyroid cancer as well as the presence of some of the following: Mucosal neuromas of the lips[stjude.org]
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48,XXYY Syndrome
The facial dysmorphism of the fetus, macrosto- mia with protruding lips, had a striking similarity with the juvenile 48,XXYY patient described by Donati et al. (1992).[docslide.com.br]
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Branchio-Oculo-Facial Syndrome
lips - Retinoschisis / retinal / chorioretinal coloboma - Skin hypoplasia / aplasia / atrophy Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia[csbg.cnb.csic.es]
[…] upper lip with an unusually broad and prominent philtrum, and full mouth.[orpha.net]
[…] deafness / hearing loss - Dermoid sinus / dimple / pit (excluding sacral) - External ear anomalies - Low set ears / posteriorly rotated ears - Philtrum deeply grooved - Protruding[csbg.cnb.csic.es]
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Corneal Dystrophies
lips & pendulous ears Dry & extremely lax itchy skin 23. Thick rope like bands of deposited amyloid Age of onset is late 70-90 yrs Inhertance AD (gene TGFB1) 24.[slideshare.net]
lips and pendulous ears (due to amyloid deposition and secondary muscular dysfunction) Pathology Sub-Bowman layer deposits of amyloid lattice lines and intra-lamellar amyloid[eyewiki.aao.org]
It presents in early adulthood with peripheral neuropathies, cranial neuropathies, hound-like facies, dry skin, blepharochalasis, protruding lips, and corneal lattice lines[webeye.ophth.uiowa.edu]
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Fissured Tongue
Figure 1: Facial profile of the patient with exopthalmos, broad nasal bridge, protruded lips, graying of hairs Click here to view Discussion Williams-Beuren syndrome is quite[jofs.in]
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Hypogonadism
The school-age boy with hypogonadism from Klinefelter syndrome probably has characteristic knock-knees (genu valgum), high arches (pes cavus), protruding lips, a projecting[testocreams.com]
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Corneal Stromal Dystrophy
lips, skin laxity, "hound dog" ) cranial and peripheral neuropathy -cardiac and renal failure -lattice may look like prominent corneal nerves (nerves won't show up in retroillumination[studyblue.com]
lips and pendulous ears (due to amyloid deposition and secondary muscular dysfunction) Pathology Sub-Bowman layer deposits of amyloid lattice lines and intra-lamellar amyloid[eyewiki.aao.org]
It presents in early adulthood with peripheral neuropathies, cranial neuropathies, hound-like facies, dry skin, blepharochalasis, protruding lips, and corneal lattice lines[webeye.ophth.uiowa.edu]