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103 Possible Causes for Dysmorphic Face, Low Set Ears, Receding Chin

  • Trisomy 18

    During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[] chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[] Babies born with trisomy 18 can have heart and kidney problems, a small head with low-set ears, a chest with an unusual shape, and crossed legs.[]

  • Rubinstein-Taybi Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Scoliosis Abnormal curving of the spine 0002650 Self-mutilation Deliberate self-harm Self mutilation [ more ][] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[]

  • Seckel Syndrome

    […] the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set[] The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed[] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[]

  • SHORT Syndrome

    […] eyes, lack of facial fat, hypoplastic nasal alae with overhanging columella, mild midface hypoplasia, small chin, large low-set ears, thin Vermillion, and downtumed mouth[] chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[]

  • Schwartz-Jampel Syndrome

    The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[] The chin was receding and the mouth was pursed. The neck and chest were normal. The abdomen was protuberant with no visceromegaly.[]

  • Cornelia De Lange Syndrome

    The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. M ...[] With routine ultrasound, the receded chin may be seen on a profile of the face. Yet, this diagnosis is often missed during a routine ultrasound examination.[] Cornelia de Lange syndrome (CdLS) is a rare, congenital syndrome characterized by growth retardation, dysmorphic face, mental retardation and limb reduction defects.[]

  • Partial Trisomy 21

    A female patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest[] […] hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set[] CLINICAL EXAMINATION 1 - Dysmorphic syndrome associating (to various extend): evocative face : frequent microcephaly, short neck, flat occiput and brachycephaly; moon-shaped[]

  • Robinow Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Rhizomelia Disproportionately short upper portion of limb 0008905 Short neck Decreased length of neck 0000470[] 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[]

  • Pierre Robin Syndrome

    A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin.[] In addition to micrognathia, infants are born with a prominent occiput, microcephaly, low-set ears, and renal and cardiac defects.[] Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[]

  • Psychomotor Retardation

    chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[] Head & neck High nasal bridge Hyper/hypo telorism Microphtalmia Mongoloid slant Occipital skull defect Small mandible Small or fish mouth(hard to open) Small or low set ears[] Dysmorphic face in two siblings with infantile neuroaxonal dystrophy . Genet Couns. 2002;13(4):465-73.[]

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