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38 subtopics

 

  • Alagille Syndrome
  • Angelman Syndrome
  • Bardet-Biedl Syndrome
  • Basal Cell Nevus Syndrome
  • Beckwith-Wiedemann Syndrome
  • Bloom Syndrome
  • Branchio-Oto-Renal Syndrome
  • Cockayne Syndrome
  • Cri-du-Chat Syndrome
  • De Lange Syndrome
  • Deaf-Blind Disorders
  • Down Syndrome
  • Ectodermal Dysplasia
  • Gardner Syndrome
  • Holoprosencephaly
  • Incontinentia Pigmenti
  • Laurence-Moon Syndrome
  • LEOPARD Syndrome
  • Marfan Syndrome
  • Mobius Syndrome
  • Nail-Patella Syndrome
  • Nevus Sebaceous of Jadassohn
  • Oculocerebrorenal Syndrome
  • Orofaciodigital Syndromes
  • Pallister-Hall Syndrome
  • POEMS Syndrome
  • Prader-Willi Syndrome
  • Proteus Syndrome
  • Prune Belly Syndrome
  • Rubella Syndrome, Congenital
  • Rubinstein-Taybi Syndrome
  • Short Rib-Polydactyly Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Trichothiodystrophy Syndromes
  • Waardenburg's Syndrome
  • Wolf-Hirschhorn Syndrome
  • Wolfram Syndrome
  • Zellweger Syndrome

Abnormalities, MultipleFollow by RSS 

You've reached a pubget topic page. Below are the latest papers on this topic, with subtopics on the left.

keywords > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple

Latest papers

Chest wall reconstruction in thoracoabdominal ectopia cordis: using the pedicled osteomuscular latissimus dorsi composite flap.

Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy.

Congenital anomalies of soft tissues: birth defects depending on tissue engineering solutions and present advances in regenerative medicine.

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

Bilateral otosclerosis in a child with esophageal atresia, protruding ears, hyperopia, clinodactyly, and broad thumbs: a unique clinical presentation.

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.

Congenital laryngeal webs: surgical course and outcomes.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Mayer-Rokintansky-Kuster-Hauser syndrome associated with atrial septal defect, partial anomalous pulmonary venous connection and unilateral kidney--an unusual triad of anomalies.

A unique presentation of epignathus.

A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21).

Surgical and prosthodontic rehabilitation in a patient with Freeman-Sheldon syndrome.

Limb length discrepancy and congenital limb anomalies in fibular hemimelia.

[Double orifice mitral valve: an incidental finding in a patient with other congenital malformations].

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

Congenital bony syngnathia with unilateral palatal shelf and soft palate agenesis.

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.

Use of array comparative genome hybridization in orofacial clefting.

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