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Literature DB >> 12868480

Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.

Abstract

A 4-year-old Italian child with the association of a solitary median maxillary central incisor, growth hormone deficiency, Duane retraction syndrome and a duplicated thumb phalanx is described.

Entities: Disease Gene Mutation Species

Mesh：

Year: 2003 PMID： 12868480 DOI： 10.1097/00019605-200304000-00014

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

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Cited

8 in total

1. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Authors: Jan Miertus; Wiktor Borozdin; Vladimir Frecer; Giorgio Tonini; Sara Bertok; Antonio Amoroso; Stanislav Miertus; Jürgen Kohlhase
Journal: Hum Genet Date: 2006-01-03 Impact factor: 4.132

2. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors: Elias I Traboulsi
Journal: Trans Am Ophthalmol Soc Date: 2004

Review 3. Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up.

Authors: N N Lygidakis; K Chatzidimitriou; N Petrou; N A Lygidakis
Journal: Eur Arch Paediatr Dent Date: 2013-06-18

Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.

1. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

2. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Review 3. Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up.

4. Oral manifestations in growth hormone disorders.

Review 5. Solitary median maxillary central incisor (SMMCI) syndrome.

6. Clinical Evaluation of Solitary Median Maxillary Central Incisor Syndrome.

7. Solitary median maxillary central incisor syndrome: A rare entity.

8. A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.