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261 Possible Causes for Hypoplastic Phalanges

  • Dihydropyrimidinuria

    Abstract Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. Its clinical presentation is variable and has also been reported in asymptomatic subjects. We report the first case of dihydropyrimidinase deficiency in Hong Kong, which[…][]

  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly , absent flexion crease of the thumbs, single transverse palmar creases[] […] distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis.[] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[]

  • Spinal Stenosis

    […] due to short metacarpals and hypoplastic terminal phalanges, thoracolumbar kyphoscoliosis, narrow transverse measurements of most vertebrae with prominent coccyx, spinal[] Recognisable skeletal abnormalities include hypoplastic facial bones, hypoplastic clavicles, narrow and anteriorly sloping shoulders, bowing of both forearm bones, brachydactyly[]

  • Carpal Instability

    Thumb Reconstructed with a Vascularized Metatarso-Phalangeal Joint Transfer: A Case Report with 28 years of Followup Hand Surgery 14: 63-68, 2009 Preventing Postoperative[] Functional Recovery and Return to Work after Mutilating Hand Injuries: Usefulness of Hand Injury Severity Score Journal of Hand Surgery 34A: 880-885, 2009 A Blauth IIIB Hypoplastic[]

  • Cooks Syndrome

    Onychonychia Hypoplastic Distal Phalanges “Onychonychia Hypoplastic Distal Phalanges” In our body, the autosomal dominant dis-order, Onychonychia Hypoplastic Distal Phalanges[] We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly, consistent[] In autosomal dominant brachydactyly with absence of middle phalanges and hypoplastic nails, the changes in the middle phalanges are distinctive.[]

  • Patau Syndrome

    […] terminal phalanges.[] […] should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic[]

  • Fetal Hydantoin Syndrome

    Fetal Hydantoin syndrome mnemonic - PHENytoin Fetal hydantoin syndrome involves microcephaly, dysmorphic craniofacial features, hypoplastic nails, hypoplastic distal phalanges[] […] nails and distal phalanges ( birth defects ).[] […] nails and distal phalanges (birth defects).[]

  • Familial Infantile Myoclonic Epilepsy

    […] or absent nails, small or absent distal phalanges of hands and feet.[] […] onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic[]

  • Cleidocranial Dysplasia

    […] terminal phalanges Synonyms & Alternative Spellings[] […] terminal phalanges Promoted articles (advertising)[] […] hypoplasia of iliac bones absent/delayed ossification of the pubic bone (pseudo-widening of the symphysis pubis) Limbs short / absent fibula short / absent radius coxa vara hypoplastic[]

  • Thrombocytopenia-Absent Radius Syndrome

    Upper limb abnormalities - bilateral absence of radii, hypoplasia or absence of ulna (may be bilateral), abnormal humerus, carpal bone hypoplasia or fusion, hypoplastic phalanges[] […] carpels and phalanges, hypoplastic ulnae humeri and shoulder spindles, syndactyly, clinodactyly of fingers and toes, selective hypoplasia of middle phalanx, fifth digit and[] […] as was demonstrated in this patient, to phocomelia. 3 Other abnormalities include: bilateral radial aplasia, this patient had unilateral radial aplasia; radial club hand, hypoplastic[]

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