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534 Possible Causes for Short Philtrum

  • Char Syndrome

    The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth.[] In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set[] Char initially described affected neonates to have low-set ears, bilateral ptosis, a short philtrum and duckbill lips.[]

  • Acrocallosal Syndrome

    […] describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short[] In addition to the classic facial deformities aforementioned, the other most commonly reported oral findings are: short philtrum/upper lip (30%); high-arched palate (30%);[] Additional malformations have been described occasionally: short philtrum/upper lip, high-arched palate, cleft lip/palate, heart defects, hypospadias and inguinal and umbilical[]

  • Microdeletion 3q29 Syndrome

    The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[] philtrum and large ears.[] Chromosomal diseases Constitutional deletions 3q29 microdeletion syndrome Synopsis mild-to-moderate mental retardation slightly dysmorphic facial features long and narrow face short[]

  • Pitt-Hopkins Syndrome

    As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[]

  • Goldberg-Shprintzen Syndrome

    At 2 years, she manifested the described dysmorphism, progressive microcephaly, mildly downward slanting palpebral fissures, a flat occiput, short philtrum, and large ears[]

  • DiGeorge Syndrome

    In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed.[] DGS Symptoms & Diagnosis Symptoms Certain facial features are often seen with DGS - low set ears, underdeveloped chin, a short philtrum (the vertical groove on the upper lip[] Short stature, learning difficulties or certain psychiatric disorders are also common.[]

  • Wolf Hirschhorn Syndrome

    The facial dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped[] The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.[] The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic[]

  • Deletion of the Long Arm of Chromosome 18

    Dysmorphology [ edit ] Common facial features include a flat and broad nasal bridge; epicanthic folds ; wide mouth; short philtrum ; everted lower lip; small and slightly[] The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae.[] Clinical features typically include mild to moderate mental retardation, short stature, round face with short protruding philtrum, palpebral ptosis and large ears with detached[]

  • Marshall-Smith Syndrome

    […] distal phalanx of finger Short outermost finger bone 0009882 Short mandibular rami 0003778 Short philtrum 0000322 Short sternum 0000879 Sporadic No previous family history[] […] blood pressure in blood vessels of lungs 0002092 Recurrent aspiration pneumonia 0002100 Shallow orbits Decreased depth of eye sockets Shallow eye sockets [ more ] 0000586 Short[]

  • Cooks Syndrome

    We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of[…][]

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