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485 Possible Causes for Dysmorphic Face, Long Philtrum

  • Williams Syndrome

    philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate mental retardation but a high verbal aptitude Comments on Williams syndrome[] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[]

  • Trisomy 9

    philtrum, small mouth, down-turned at the corners, micrognathia, midline cleft involving the hard and soft palate and a webbed neck.[] A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[] Dysmorphisms in the heart , kidneys , and musculoskeletal system may also occur.[]

  • Robinow Syndrome

    philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype.[] Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[] Definition A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital[]

  • Three M Syndrome

    The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short[] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[] philtrum, fleshy tipped nose, midface hypoplasia and frontal bossing.[]

  • Pallister-Killian Syndrome

    Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly[] Craniofacial dysmorphism is typically present. For instance, a prominent forehead and a flat face are usually seen and the nose is small and nostrils anteverted.[] philtrum, short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation.[]

  • Miller Dieker Syndrome

    On examination, child had microcephaly, prominent forehead, a wide nasal bridge, low-set ears, upturned nares, long philtrum (vertical groove on the midline of the upper lip[] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[] philtrum with an abnormal upper lip, and micrognathia. [6] [7] Type 2 is caused by neuronal over-migration in development.[]

  • Schwartz-Jampel Syndrome

    […] eyelashes in irregular rows 0007740 Long philtrum 0000343 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Malignant hyperthermia 0002047[] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[] philtrum, dimpled chin, blepharophimosis, ulnar deviation of the hands, and flexion of the fingers.[]

  • Marshall's Syndrome

    He had ocular hypertelorism with midface hypoplasia and a broad, flat nasal bridge, anteverted nares, and long philtrum. He also had sparse lusterless scalp hair.[] Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia[] […] marked by large ears, broad forehead, hypertelorism, and long philtrum.[]

  • Mulibrey Nanism Syndrome

    philtrum, philtrum, prominent lips, “gloomy gloomy facies” facies[] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[] Affected patients usually have a triangle-shaped face with a pointed chin, large ears, full eyebrows, an upturned nose with a fleshy tip, long philtrum, and a prominent mouth[]

  • Trigonocephaly

    philtrum and a drooping mouth.[] Our patient had many of the clinical and anatomic findings typical of OTCS: the dysmorphic face, white matter alteration, as described by Lalatta [ 4 ] and by Azimi [ 5 ],[] Other features include microcephaly, peculiar facies (broad nasal ridge, short nose with a broad root, long philtrum, micrognathia, cowlick, low-set and posteriorly rotated[]

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