Chromosome 11q13 deletion syndrome

• Príomhchruthaitheoirí: Yu-Seon Kim (Údar), Gun-Ha Kim (Údar), Jung Hye Byeon (Údar), So-Hee Eun (Údar), Baik-Lin Eun (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.
• Notes: 1738-1061; 2092-7258; 10.3345/kjp.2016.59.11.S10
• Keywords: Chromosome 11q13; Otodental syndrome; Tooth abnormalities; Hearing loss; Coloboma; Pediatrics; RJ1-570
• Source: Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S10-S13 (2016)

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.