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1.
Am J Med Genet A ; 161A(2): 343-51, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23307468

ABSTRACT

Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients.


Subject(s)
Abnormalities, Multiple/diagnosis , Craniosynostoses/diagnostic imaging , Developmental Disabilities/diagnosis , Trisomy , Abnormalities, Multiple/genetics , Child , Chromosomes, Human, Pair 6 , Core Binding Factor Alpha 1 Subunit/genetics , Craniosynostoses/genetics , Craniosynostoses/surgery , Developmental Disabilities/genetics , Female , Gene Duplication , Genetic Association Studies , Humans , Infant , Infant, Newborn , Radiography , Syndrome
2.
Am J Med Genet A ; 143A(24): 2893-5, 2007 Dec 15.
Article in English | MEDLINE | ID: mdl-17985360

ABSTRACT

Homer's Iliad, is an epic poem that describes the last 70 days of the Trojan War, which was waged against the city of Troy by the Achaeans. Here, the descent, lineage, and the pedigree of the Trojans are presented. In the Illiad, they are said to have originated from Zeus. Beginning with him, the Trojan pedigree comprised 17 men in 8 generations with Dardanus, founder of Dardania in the second generation; Tros, King of the Trojans in the fourth generation; and the two heroes Hector and Aeneas in the eighth generation. In the seventh generation, Priam, as King of the Trojans, had a huge family, including 50 sons: 19 children with his wife Hecabe, other sons with many different wives, and some daughters as well. Hector, the first born, became leader of the Trojans. Hector's brother, Paris, in abducting Helen of Sparta, the wife of King Menelaus, caused the Trojan War to break out.


Subject(s)
Medicine in Literature , Poetry as Topic , Greece, Ancient , History, Ancient , Humans , Literature , Military Medicine/history , Models, Genetic
3.
J Periodontol ; 78(9): 1831-8, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17760556

ABSTRACT

BACKGROUND: Hajdu-Cheney syndrome (HCS) is an inheritable, rare disorder of bone metabolism, associated with acro-osteolysis of the distal phalanges, short stature, distinctive craniofacial and skull changes, premature tooth loss, and periodontitis. This report focuses on the periodontal manifestations of HCS. METHODS: A 22-year-old female presented with the characteristic clinical features of HCS, including short stature, small face, prominent epicanthal folds, thin lips, small mouth, and short hands. There were no abnormal biochemical, hematological, or hormonal data. Tests for bone mineral density were indicative of osteoporosis. Cephalometric analysis revealed hypoplasia of the midface and increased cranial base angle; the maxilla and the mandible were set posteriorly. The sella turcica was enlarged, elongated, and wide open with slender clinoids. Hair samples were examined by scanning electron microscopy, and tooth cementum and dentin were evaluated histologically. RESULTS: According to the periodontal evaluation, gingival inflammation was 12.5%, bleeding on probing score was 24%, probing depths averaged 4 to 6 mm, and clinical attachment loss averaged 3 to 6 mm. Class II furcations were found on three teeth. Almost all teeth exhibited pathological mobility of varying degrees. There was a generalized, horizontal bone loss of approximately 50%. Three teeth had to be extracted because of severe localized periodontal destruction. Histologic examination of the dentin and the cementum was normal. CONCLUSIONS: HCS periodontitis is associated with an unpredictable and uneven, rapid rate of periodontal destruction of unknown etiology. Further research is required to identify the role of the possible pathogenic factors involved.


Subject(s)
Hajdu-Cheney Syndrome/complications , Periodontitis/etiology , Adult , Alveolar Bone Loss/etiology , Alveolar Bone Loss/pathology , Cephalometry , Facies , Female , Furcation Defects/etiology , Furcation Defects/pathology , Humans , Periodontitis/pathology , Tooth Mobility/etiology , Tooth Mobility/pathology
4.
Am J Med Genet A ; 138A(2): 190-2, 2005 Oct 01.
Article in English | MEDLINE | ID: mdl-16145687

ABSTRACT

In Homer's Odyssey, Odysseus narrates the lifestyle and behavior of the Cyclopes. They were no larger than life-sized figures and lived in a land rich in natural products but cultivated nothing. They dwelled in caves, and their sociopolitical system was based on the family unit. There were no interfamilial congregations, institutions, or laws. They had no ships, nor were there any craftsmen who might build ships to visit the cities of other men. Perhaps the land of the Cyclopes described in Homer's Odyssey may have represented a place somewhat like the hospitals or islands which were used to isolate patients with leprosy. Otherwise, we can follow Thucydides' opinion: let it suffice, as the story has been told by poets, and each man has formed his own opinion about them.


Subject(s)
Craniofacial Abnormalities/history , Eye Abnormalities/history , History, Ancient , Humans , Life Style
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