No abstract available.
Cri-du-Chat Syndrome*

No abstract available.
Cri-du-Chat Syndrome* ; Humans

Nodular regenerative hyperplasia (NRH) of the liver is an uncommon disease entity, especially in the pediatricage group. A few cases have been reported in the radiologic literature, but follow-up imaging studies are rare. We describe a case of NRH, diagnosed by ultrasound-guided needle biopsy, in a seven-month-old infant with cri-du-chat syndrome. Initial ultrasound revealed several small hypoechogenic nodules in the liver, but CT and MR failed to demonstrate their presence. Two follow-up sonographic examinations were performed 7 and 20 months later, revealing increases in the size and number of the nodules.
Biopsy, Needle ; Cri-du-Chat Syndrome ; Follow-Up Studies ; Humans ; Hyperplasia* ; Infant* ; Liver* ; Ultrasonography

We have experienced two cases of the Cri Du Chat Syndrome. The first case, 1 and 11/12 year old female, was admitted to evaluated profound mental retardation and failure to thrive. The other, 3 month old female, visit this dept for cat-like cry. They had the typical clinical characteristics of the Cri Du Chat Syndrome and showed showed the classical chromosome abnormality (46, XX 5p-), revealed by cytogenetic study.
Chromosome Aberrations ; Cri-du-Chat Syndrome ; Cytogenetics ; Failure to Thrive ; Female ; Humans ; Infant ; Intellectual Disability

PURPOSE: To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities. CASE SUMMARY: A 7 - month - old infant was confirmed as having cri du chat syndrome by a chromosomal study. He showed mild developmental retardation and eyeball deviation. This male infant underwent ophthalmic evaluations, including an extraocular examination, measurement of deviation, ocular movement test, interepicanthal distance, and fundus examination. As a result, facial abnormalities were found, including telecanthus and epicanthal folds. The infant had intermittent exotropia of 40 prism diopters according to the Hirschberg test and optic atrophy according to the fundus examination. CONCLUSIONS: Cri du chat syndrome manifests with many different ocular symptoms, including hypertelorism, telecanthus, epicanthal folds, and exotropia.
Craniofacial Abnormalities ; Cri-du-Chat Syndrome ; Exotropia ; Humans ; Hypertelorism ; Infant ; Male ; Optic Atrophy ; Polyenes

Anemia, Macrocytic ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; Humans ; Trisomy

Cri-du-Chat Syndrome ; complications ; Humans ; Infant, Newborn ; Male ; XYY Karyotype

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.
Brain Stem/*pathology ; Cri-du-Chat Syndrome/*complications/diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant ; Magnetic Resonance Imaging/*methods ; Pons/pathology

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.
Aneuploidy ; Arm ; Chromosome Aberrations ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome* ; Karyotyping ; Prenatal Diagnosis* ; Ultrasonography ; Ultrasonography, Prenatal

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.
Arm ; Centers for Disease Control and Prevention (U.S.) ; Chenodeoxycholic Acid ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; Fetal Alcohol Syndrome ; Humans ; Infant ; Intellectual Disability