Browsing by Author "Percin, EF"
Now showing items 1-17 of 17
-
Anencephalic infant with cleft palate and natal teeth: A case report
Marakoglu, K; Percin, EF; Marakoglu, I; Gursoy, UK; Goze, F (ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2004)Objective: Natal/neonatal teeth are very common in children with complete unilateral and bilateral cleft lip and palate. This article outlines a patient with intrauterine growth retardation, anencephaly, atrial septal ... -
A case with Pyle type Metaphyseal Dysplasia: Clinical, radiological and histological evaluation
Percin, EF; Percin, S; Koptagel, E; Demirel, H (MEDECINE ET HYGIENE, 2003)A case with Pyle type Metaphyseal Dysplasia: clinical, radiological and histological evaluation: Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that is primarily affect metaphyses. Here we present a ... -
A case with spondylo-metaphyseal dysplasia type A4
Percin, EF; Tukenmez, M; Percin, S (MEDECINE ET HYGIENE, 2004)A case with spondylo-metaphyseal dysplasia type A4: We present a case with spondylo-metaphyseal dysplasia type A4 characterized by ovoid vertebral bodies with anterior tongue-like deformities, widened irregular and sclerotic ... -
Chromosome 2 fragility in 48,XXYY syndrome: a case report
Ozdemir, O; Percin, EF; Sezgin, I (KARGER, 1999)… -
Femoral-facial syndrome with hemifacial microsomia and hypoglossia
Duzcan, F; Ergin, H; Percin, EF; Tepeli, E; Erkula, G (LIPPINCOTT WILLIAMS & WILKINS, 2004)We present a boy diagnosed as femoral-facial syndrome with total agenesis of right lower limb, agenesis of femur and fibula of left lower limb and micrognathia, long philtrum as facial features. Some additional features ... -
First-trimester diagnosis of Robinow syndrome
Percin, EF; Guvenal, T; Cetin, A; Percin, S; Goze, F; Arici, S (KARGER, 2001)We present 2 cases with Robinow syndrome in a nonconsanguineous Turkish couple. The first case, second living child of the family, has all of the cardinal features of this syndrome including short stature, mesomelic ... -
Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly
Marakoglu, I; Percin, EF; Gursoy, UK; Onarlioglu, B; Ergur, AT (MEDECINE ET HYGIENE, 2005)Gingival fibromatosis, short stature, border-line IQ. facial dysmorphism and hepatomegaly. Gingival fibromatosis is a rare and benign disorder. The enlarged gingivae are firm and may Interfere with speech, closure of the ... -
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Percin, EF; Ploder, LA; Yu, JJ; Arici, K; Horsford, DJ; Rutherford, A; Bapat, B; Cox, DW; Duncan, AMV; Kalnins, VI; Kocak-Altintas, A; Sowden, JC; Traboulsi, E; Sarfarazi, M; McInnes, RR (NATURE PUBLISHING GROUP, 2000)Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three ... -
An infant with situs inversus totalis, branchial cleft cyst and ectopic kidney: a new combination?
Koyluoglu, G; Percin, EF (LIPPINCOTT WILLIAMS & WILKINS, 1999)… -
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?
Percin, EF; Percin, S; Egilmez, H; Sezgin, I; Ozbas, F; Akarsu, AN (BRITISH MED JOURNAL PUBL GROUP, 1998)Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe ... -
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: Homozygous feature of syndactyly type I?.
Percin, EF; Percin, S; Egilmez, H; Sezgin, I; Ozbas, F; Akarsu, AN (UNIV CHICAGO PRESS, 1997)… -
A new combination: short stature, congenital unilateral absence of the fibula, oligodactyly and trigonocephaly
Percin, EF; Percin, S (LIPPINCOTT WILLIAMS & WILKINS, 1999)… -
A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?
Percin, EF; Duzcan, F; Kafali, G; Sezgin, I (MUNKSGAARD INT PUBL LTD, 1995)A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature ... -
Two unusual types of syndactyly in the same family; Cenani-Lenz type and << new >> type versus severe type I syndactyly?
Percin, EF; Percin, S (MEDECINE ET HYGIENE, 2003)Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a ... -
Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet
Percin, EF; Yilmaz, S (LIPPINCOTT WILLIAMS & WILKINS, 2003)We report on a case with polydactyly, syndactyly and brachydactyly of the hands and oligodactyly of the feet, but no other anomalies and normal chromosome analysis. We compared the findings in our case with those of ...
