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707 Possible Causes for Microphthalmos, Polydactyly

  • Patau Syndrome

    Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[] Keywords: Retinitis pigmentosa, polydactyly, mental retardation, hypogenitalism, obesity, consanguinous marriage. 3.[]

  • Meckel Syndrome

    Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[] Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion.[] M Warburg, Classification of microphthalmos and coloboma., Journal of Medical Genetics, 10.1136/jmg.30.8.664, 30, 8, (664-669), (1993). H.M. Ramadani and H.A.[]

  • Melhem-Fahl Syndrome

    […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[] Gordon syndrome Ppm-X Syndrome Prader-Willi syndrome Prader-Willi-Like Syndrome Prata Libéral Gonçalves Syndrome Pre-Excitation Syndromes Preaxial Deficiency, Postaxial Polydactyly[] Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia Microphthalmia, Lentz type Microphthalmia Microphthalmos[]

  • Hallermann-Streiff Syndrome

    The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[] […] excavatum, Pectus carinatum ) any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome dactyly Polydactyly[] All patients had a microcornea and microphthalmos. Three patients had a membranous cataract.[]

  • Retinitis Pigmentosa

    The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome was described for the first time in literature in 1991.[] The two siblings showed signs of RP and polydactyly.[] […] are more likely to develop symptoms of RP earlier than those diagnosed with type two Laurence-Moon-Bardet-Beidl Syndrome – the symptoms of this syndrome can include RP, polydactyly[]

  • Anophthalmia - Microphthalmia Syndrome

    Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[] […] and hands and include holoprosencephaly, ACC, SWS, hydrocephalus, anophthalmia, low set ears, cleft lip/palate, VSD, ASD, PDA, pulmonary stenosis, mitral/aortic atresia, polydactyly[] Abnormalities of hands and feet: polydactyly (extra fingers or toes), small hyperconvex nails and rocker-bottom feet [ 4 ].[]

  • Pierre Robin Syndrome

    Involvement of the musculoskeletal system are as follows: Upper Limb: Dysplastic phalanges Polydactyly Clinodactyly Hypersensitive joints Oligodactyly Lower extremities Foot[] Abnormalities like syndactyly, dysplastic phalanges, polydactyly, and clinodactyly are seen in many.[] They include syndactyly, dysplastic phalanges, polydactyly, clinodactyly, hyperextensible joints, and oligodactyly in the upper limbs.[]

  • Branchio-Oculo-Facial Syndrome

    A young male infant was noted at birth to have bilateral cleft lip and palate, bilateral microphthalmos and ocular colobomata, and a dysplastic left kidney.[] This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[] Clinical Characteristics Ocular Features: Microphthalmos, or anophthalmia, and an imperforate nasolacrimal duct are the primary ocular features in this syndrome.[]

  • Pallister-Hall Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. Abstract We present a preterm-born girl with polydactyly[] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[]

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