نتایج جستجو برای: philtrum
تعداد نتایج: 262 فیلتر نتایج به سال:
BACKGROUND GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodelling and deacetylase complex involved in chromatin modification and regulation of transcription. We recently identified two de novo loss-of-function mutations in GATAD2B by whole exome sequencing in two unrelated individuals with severe intellectual disability. METHODS To identify ...
FG syndrome, Lujan syndrome, and Ohdo syndrome, the Maat-Kievit-Brunner type, have been described as distinct syndromes with overlapping non-specific features and different missense mutations of the MED12 gene have been reported in all of them. We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was linked to a 30-cM region e...
The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-s...
BACKGROUND Pierpont syndrome was first described in 1998 with key characteristics including developmental delay, dysmorphic facial features, fat pads on hands and feet, and feeding difficulties. To date the mechanism of inheritance is unknown. Nine out of ten previously described patients with Pierpont syndrome were boys. This is the first report of a case of a non-white patient with Pierpont s...
Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI. Although both patients (...
BACKGROUND Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant disorder clinically characterized by sparse and slow-growing hair, pear-shaped nose, elongated philtrum, thin upper lip, and bone deformities, in particular, cone-shaped epiphyses of the phalanges. Very recently, the responsible gene TRPS1 has been cloned on human chromosome 8q24. OBSERVATION We describe a ...
EDITOR—Fig 1 in the paper by Beales et al shows portraits of six patients with the Bardet-Biedl syndrome (BBS). Number 4, the lower left picture, has the facial appearance of the Cohen syndrome (CS) with apparent microcephaly, thick hair, coarse eyebrows, short philtrum, and prominent incisors. Since she is presented as a case of the BBS, she should have a rod-cone retinal dystrophy and other s...
Ten adult African giant rats (AGR), 5 males and 5 females, were used to determine the regional anatomy of their oral cavity. Body measurements were recorded. The oral cavity was accessed by disarticulating the temporo-mandibular joint and the gross morphology of the lips, palate, cheek pouch, teeth, tongue and major salivary glands were studied. Morphometric parameters of the cheek pouch, tongu...
Spinocerebellar ataxia type 27 (SCA27) is caused by mutations in FGF14 and is associated with developmental delays, tremors, and ataxia, which is typically adult onset and slowly progressing. We report here the first case of a de novo microdeletion of 13q33.1 involving only the FGF14 gene in a child presenting with symptoms of SCA27 includes mild developmental delays, abnormal gait, and tremors...
A 36 year-old female patient gravida 2 para 1, with no particular past medical history consulted her gynecologist at 14 weeks' gestation for pelvic pain. Her first pregnancy was uneventful and she did not take any specific drugs prior or during her pregnancy. Consanguinity and hereditary diseases were denied. Ultrasonography revealed a retention image measuring 67,2 mm with no cardiac pulsation...
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