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Achondroplasia
Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar[fpnotebook.com]
Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face[biomarin.com]
hypoplasia, permanent sway of the lower back, spinal stenosis, recurrent ear infections and obesity.Some of these complications can result in invasive surgeries such as spinal[biomarin.com]
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Crouzon Syndrome-Acanthosis Nigricans Syndrome
He had a dysmorphic face including a large forehead, hypertelorism, mid-face hypoplasia, prognathism and low-set ears.[em-consulte.com]
Facial features : Proptosis (due to shallow orbits), hypertelorism, strabismus, mid face hypoplasia, mandibular prognathism.[genetics4medics.com]
. • Psittichorhina (beak-like nose) • Frontal bossing • Midface hypoplasia: flat or underdeveloped mid-facial regions • Hypoplastic maxilla with relative mandibular prognathism[de.slideshare.net]
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Autosomal Dominant Larsen Syndrome
Cervical kyphosis, scoliosis Short stature Craniofacial : Prominent forehead, hypertelorism, depressed nasal bridge, mid-face hypoplasia, cleft palate Hands : spatula shaped[genetics4medics.com]
He had facial dysmorphism with depressed nasal bridge, mid face hypoplasia, telecanthus and long philtrum (Fig. 1a and b ).[bmcmedgenet.biomedcentral.com]
He showed flat facial appearance, depressed nasal bridge, mid face hypoplasia, telecanthus, and long philtrum (Fig. 12a ).[bmcmedgenet.biomedcentral.com]
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Familial Median Cleft of the Upper and Lower Lips
Diastrophic dysplasia 222600 AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face[en.wikibooks.org]
hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus syndrome (Gorlin syndrome) 109400 AD macrocephaly, broad facies[en.wikibooks.org]
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X-Linked Mandibulofacial Dysostosis
Diastrophic dysplasia 222600 AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face[widesmiles2.org]
hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus syndrome (Gorlin syndrome) 109400 AD macrocephaly, broad facies[widesmiles2.org]
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Autosomal Recessive Osteopetrosis 2
[…] craniofacial examination revealed open cranial sutures, Wormian bones, increased density and thickening of the basis of the skull, hypoplastic maxillary and frontal sinuses and mid-face[eurorad.org]
hypoplasia in the lateral and antero-posterior skull radiographs.[eurorad.org]
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Humero-Radial Synostosis
face hypoplasia with protposis Macrocephaly, hearing loss, carpal/tarsal fusion, coronal synostosis Muenke Syndrome: Facial Features Midface hypoplasia, high arched palate[quizlet.com]
Facial photographs of Patient 1 show proptosis, mid-face hypoplasia with depressed nasal bridge (A) and dorsally inverted coccyx (B).[e-sciencecentral.org]
Key Words: Craniosynostosis, radiohumeral synostosis, arachnodactyl, mid face hypoplasia.[bioline.org.br]
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X-Linked Alport Syndrome
Associations mid face hypoplasia 3 Ultrasound Normal size and echotexture in early stage, however advanced disease may show small, shrunken and echogenic kidneys .[radiopaedia.org]
Mid-face hypoplasia and elliptocytosis are seen in some of these patients.[astor.ahc.umn.edu]
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Laron Syndrome
The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com]
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Lysinuric Protein Intolerance
Examination revealed abdominal obesity, thin limbs and a suggestion of mid-face hypoplasia.[bone-abstracts.org]