Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
نویسندگان
چکیده
منابع مشابه
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
PURPOSE The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molec...
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Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous sys...
متن کاملFacial dysmorphism across the fetal alcohol spectrum.
OBJECTIVE Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics. METHODS Of 192 Cape Coloured children recruited, 69...
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Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features. 2 Seizures are often observed (80%), varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc), and are very often resistant to all medication. Around 50% of the children s...
متن کاملNephrocalcinosis in a preterm infant
Bilateral medullary echogenic foci are not uncommonly seen in renal ultrasounds of sick, preterm neonates. Often, the likely diagnosis is nephrocalcinosis. We present one such case. The long term outcome in this population is unknown, but is generally thought to be essentially good.
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ژورنال
عنوان ژورنال: Journal of Genetic Medicine
سال: 2018
ISSN: 1226-1769,2383-8442
DOI: 10.5734/jgm.2018.15.2.115