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Trichorhinophalangeal Dysplasia Type 1
philtrum (vertical groove between the nose and upper lip), thin upper lip Medially thick, laterally thin, or absent eyebrows Mild mental retardation, average intelligence[dovemed.com]
philtrum Microdontia Narrow palate Pear-shaped nose Sparse lateral eyebrow Thin upper lip vermilion Abnormality of limbs ... ...[familydiagnosis.com]
philtrum (Fig. 2c ).[bmcmedgenet.biomedcentral.com]
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Cerebro-Facio-Thoracic Dysplasia
philtrum, micrognathia, triangular-shaped mouth and low posterior hairline, and also brachycephaly, calcified clinoid ligaments, and upper rib deformities.[ncbi.nlm.nih.gov]
philtrum, micrognathia, triangular-shaped mouth and low posterior hairline) brachycephaly,calcified clinoid ligaments, and upper rib deformities.[docslide.com.br]
[…] cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long[ncbi.nlm.nih.gov]
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Cerebellar Hypoplasia and Atrophy
The ears are large and low-set and facial dysmorphism (full cheeks, long philtrum) is present. Infants have poor head control and truncal ataxia.[disorders.eyes.arizona.edu]
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Trigonocephaly
philtrum and a drooping mouth.[hal-amu.archives-ouvertes.fr]
Other features include microcephaly, peculiar facies (broad nasal ridge, short nose with a broad root, long philtrum, micrognathia, cowlick, low-set and posteriorly rotated[whonamedit.com]
[…] with severe intellectual disability, trigonocephaly and dysmorphic facial features such as a midface hypoplasia, a flat nose, a depressed nasal bridge, hypertelorism, a long[hal-amu.archives-ouvertes.fr]
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Macrocephaly - Intellectual Disability - Autism Syndrome
philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.[informatics.jax.org]
[…] autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long[informatics.jax.org]
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Hypertelorism and Tetralogy of Fallot
Symptoms via clinical synopsis from OMIM: 57 Head And Neck Eyes: hypertelorism epicanthal folds narrow palpebral fissures Head And Neck Face: long philtrum Genitourinary External[malacards.org]
Cornelia de LangeCohesin complex, CDLS1, CDLS2, CDLS 3Microcephaly; long eyelashes; long philtrum; synophrys (joined eyebrows); small, wide-spaced teeth; curved 5th finger[dontforgetthebubbles.com]
Cardiac lesions in 1/3 of cases: VSD is most common Hurst: congenital heart disease; choanal stenosis; short stature Autosomal recessive ASD and VSD; microcephaly, small nose, long[en.wikibooks.org]
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Hyperphosphatasia with Mental Retardation Syndrome 4
These individuals bear a striking resemblance with a broad nasal bridge, long-appearing palpebral fissures, a broad nasal tip, a short nose, a long philtrum, a thin and wide[iofbonehealth.org]
The philtrum is long and wide. The ears may appear large and the neck is short. The thorax is abnormally wide and the nipples are widely spaced and umbilicated.[disorders.eyes.arizona.edu]
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Rhizomelic Chondrodysplasia Punctata Type 3
The fetus had micrognathia, a depressed nasal bridge, flat nose, long philtrum, short columella and rhizomelia.[questia.com]
Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow.[jcnonweb.com]
philtrum and macrostomia”.1 Diagnosis of is based on clinical and radiologic findings and can be confirmed by molecular analysis.4 Prenatal diagnosis is feasible when the[ispub.com]
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Posterior Subcapsular Cataract
His disease was further characterized by physical underdevelopment and distinct features of hypertelorism, a wide-based nose, long philtrum, relatively large mouth with thick[ncbi.nlm.nih.gov]
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate/ bifid uvula, micrognathia, and[prezi.com]
philtrum, high-arched palate, micrognathia, and small teeth were observed (Fig. 1).[prezi.com]
, brachycephaly, mid-face hypoplasia, mild hypertelorism, upslanting palpebral fissures, prominent supraorbital ridges, depressed nasal bridge, small upturned nasal tip, long[prezi.com]