نتایج جستجو برای: philtrum
تعداد نتایج: 262 فیلتر نتایج به سال:
We present the case of a girl diagnosed with prenatal hypertrophic cardiomyopathy in week 32 of gestation. In this first pregnancy for an older woman, the fetus had a thickened nuchal fold at the 12-week screening; amniocentesis revealed a normal 46, XX karyotype and polyhydramnios. She was born at 38 weeks of gestation with no complications. She was admitted for study, and physical examination...
This case report presents the dental management of a 13-year-old girl with mosaic trisomy 9. She had: (1) severe psychomotor retardation; (2) short stature; (3) progressive microcephaly; (4) flat feet; (5) genu valgum; and (6) severe kyphoscoliosis. Dysmorphic facial features included: (1) maxillary prognathism; (2) narrow high-arched palate; (3) short philtrum; (4) small low posterior dysplast...
We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb terminal deletion associated with the inverted duplication of the adjacent 21,5 Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of...
Benign Triton tumours are exceedingly rare tumours occurring predominantly in young children. Fewer than 20 cases have been reported in literature. The tumours develop as masses in various large nerve trunks, the most common of them being the brachial and the sciatic. They are very rarely encountered in the head and neck region. Neurological symptoms may manifest due to their strategic location...
Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadia...
Absence of the right lateral rectus muscle and hypoplasia of the left was found in a child with congenital esotropia. He had mental and physical retardation, bilateral optic nerve hypoplasia, and many minor dysmorphic features, including brachycephaly, high forehead, poorly folded, low set ears, epicanthic folds, exaggerated Cupid's bow, long philtrum, and single palmar creases. Unusual feature...
We describe 2 patients with a combination of findings strikingly similar to those described by Pitt et al. [1984], consisting of severe mental retardation, pre- and postnatal growth retardation, history of seizures, microcephaly, ocular proptosis, mid-face hypoplasia, short and flat philtrum, and wide mouth. Our cases included, a total of only 9 patients has been described. One of our patients ...
In this study, the clinical, IQ, and cytogenetic findings in nine Turner's syndrome patients with a ring (X) cell line are compared with those in 16 patients in whom only a 45,X cell line could be found. The ring (X) patients lacked many of the "classic" Turner's syndrome features and the majority were not karyotyped until after the age of 11, usually because of pubertal failure. They also show...
History: This macaque was imported from the Philippines in 1990 to augment the breeding colony at the California Regional Primate Research Center. Four years later she was brought to the attention of the veterinary service because of an equivocal tuberculin reaction and the presence of a skin rash. A follow up skin test using mammalian tuberculin, avian tuberculin and a sterile saline control p...
CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be important for neurodevelopment. By trio whole-exome sequencing, we have identified de novo deleterious mutations in CHAMP1 in five unrelated individuals affected by intellectual disability with severe speech impairment, motor developmental...
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