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blepharophimosis/crise épileptique
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Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
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Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor
[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].
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We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of
Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality.
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An abnormality of chromosome 16 in an eight year-old male was associated with a multiple congenital anomalies syndrome characterized by myopathy, cataracts, blepharophimosis, microcephaly, failure to grow, profound mental retardation, moderate sensorineural hearing loss, grand mal seizures,
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
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We describe a 14-year-old boy with congenital bilateral cataracts, blepharophimosis, ptosis, choanal atresia, sensorineural hearing loss, short, webbed neck, poor esophageal motility, severe growth and mental retardation, skeletal anomalies, seizures, and no speech. As an infant, he had transient
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
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High-resolution microarray technology has facilitated the detection of submicroscopic chromosome aberrations and characterization of new microdeletion syndromes. We present clinical and molecular data of five patients with previously undescribed overlapping interstitial deletions involving
Partial deletion of the short arm of chromosome 3.
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A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus,
Ocular findings in triploidy.
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We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and
Further delineation of the chromosome 14q terminal deletion syndrome.
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A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, a long philtrum, upturned corners of the mouth, and mild developmental delay was found to have a small subtelomeric deletion of the long arm of chromosome 14 (q32.31-qter). In comparing her phenotype with previously reported
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
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This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. The siblings visited our hospital due to "pulmonary infection". Facial dysmorphism including long
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