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Z Roje, Z Roje, M Ninković, S Dokuzović, J Varvodić
BACKGROUND: Apert syndrome is a set of complex malformations of the first brachial arch, with manifestations on the skull, face, hands and feet. At the level of the hand, the following signs are always present: complex syndactyly of the second, third and fourth digits with distal bone fusion; simple syndactyly of the fifth digit; foreshortened thumb with radial clinodactily; and symphalangism excluding the fifth digit. METHODS: The digital separation of an Apert hand should begin at 9 months of age and should be completed by 2 to 4 years of age...
2012: Acta Chirurgiae Plasticae
A Cansu, A Ahmetoglu, M Mutlu, S Guven, M A Osmanagaoglu
Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which is characterized by arterial calcification. A 29-year-old primigravida at 33 weeks' gestation was referred for further evaluation for polyhydramniosis. An ultrasonographic examination revealed an intrauterine growth restricted fetus, pericardial effusion, increased renal cortical echogenicity with sparing of corticomedullary differentiation, and diffuse arterial calcifications involving the aorta, pulmonary artery, common iliac arteries, renal arteries, and common carotid arteries...
2010: Clinical and Experimental Obstetrics & Gynecology
M Tschernigg, E Petek, K Wagner, P M Kroisel
Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of previously described patients with 4p duplication syndrome and include a deep hairline, deep-set eyes, short pug nose, full cheeks, simian crease, clinodactily of the fifth digit, no speech development and a moderate psychomotor retardation. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe confirmed that the extra material is of chromosome 4 origin...
2002: Genetic Counseling
D Frappaz, J Bourgeois, J C Berthier, C Laurent, M Bethenod
With one personal case and thirteen cases from literature about distal deletion of the long arm of chromosome 4 (4 q-), authors try to describe a clinical syndrome related to deletion of segment 4 q 31 leads to q ter. This syndrome includes a normal intrauterine growth, a growth and mental retardation. Morphological abnormalities consist in microcephaly, palato-cheiloschisis with micrognathia, hypertelorism with epicanthald folds, large nose bridge with anteverted nases, various anomalies of ears; clinodactily of Vth finger and toe, various cardiac defects...
June 1983: Pédiatrie
R M Zumel, M T Darnaude, A Delicado, A Diaz de Bustamante, M L de Torres, I López-Pájares
Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic and low set ears, clinodactily, failure to grow, muscular hypotony and mental retardation. Different hypotheses are discussed in order to explain the variable phenotypical expression of the 18 p-syndrome.
1989: Annales de Génétique
D Vranjesević, N Jović, S Branković
An 11-old boy with Prader-Willi syndrome and partial epilepsy was reported. Muscular hypotonia in early infancy was extreme and developmental milestones were retarded, especially walk and speech. He achieved these landmarks within three years. The first seizure disorder was seen in the 9th year. The patient was characterized by hypotonic musculature, severe mental retardation, obesity (gynaecomasty, excess of fat on the thighs, the abdomen and the trunk), hypogonadism (a minute penis, hypoplastic scrotum and cryptorchidism)...
May 1989: Srpski Arhiv za Celokupno Lekarstvo
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