Klippel‐Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome?

Takahira, Shoko; Kondoh, Tatsuro; Sumi, Muneichiro; Tagawa, Manabu; Obatake, Masayuki; Kinoshita, Eiichi; Shimokawa, Osamu; Harada, Naoki; Miyake, Noriko; Matsumoto, Naomichi; Moriuchi, Hiroyuki

doi:10.1002/ajmg.a.30947

Cited by 4 publications

(14 citation statements)

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“…Distinctive abnormalities with the shape of the face, eyes, ears, nose, and mouth are common. The face is narrow or triangular shaped [5, 18] with a sloping forehead [5, 16, 17]. The supraorbital ridge is shallow and even with the face [5, 17, 18].…”

Section: Description Of Disordermentioning

confidence: 99%

“…The supraorbital ridge is shallow and even with the face [5, 17, 18]. Micrognathia, a receding chin that results in an underbite, was present in 85 of the cases [5, 16-19]. The hair and the eyebrows are thin and sparse [5, 10, 16, 18, 19].…”

Section: Description Of Disordermentioning

confidence: 99%

“…Micrognathia, a receding chin that results in an underbite, was present in 85 of the cases [5, 16-19]. The hair and the eyebrows are thin and sparse [5, 10, 16, 18, 19]. Facial asymmetry or abnormal neck has been reported, but occurs in less than ten percent of cases [5].…”

Section: Description Of Disordermentioning

confidence: 99%

“…Otis media (inflammation of the middle ear) is often severe and can require the insertion of tubes [24]. A broad or flat nasal bridge is common [5, 10, 16], and some cases document a prominent round tip of the nose [5]. …”

Section: Description Of Disordermentioning

confidence: 99%

“…Drooping of the upper eyelid was observed in the majority of cases [5, 10, 16, 18]. Epicanthal folds are excessive and cover the inner corner of the eye [5, 18].…”

Section: Description Of Disordermentioning

confidence: 99%

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Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

2011

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Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome.KeywordsDubowitz; Syndrome; Autosomal; Recessive

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Section: Description Of Disordermentioning

confidence: 99%

Section: Description Of Disordermentioning

confidence: 99%

Section: Description Of Disordermentioning

confidence: 99%

Section: Description Of Disordermentioning

confidence: 99%

“…Drooping of the upper eyelid was observed in the majority of cases [5, 10, 16, 18]. Epicanthal folds are excessive and cover the inner corner of the eye [5, 18].…”

Section: Description Of Disordermentioning

confidence: 99%

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Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

2011

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Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

et al. 2008

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Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tarsal, and vertebral fusions. GDF6 is expressed at the boundaries of the developing carpals, tarsals, and vertebrae and within the adult vertebral disc. GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS.

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Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Darcy

Rosenthal

Wallerstein

2011

Case Reports in Genetics

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We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH). Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.

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Klippel‐Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome?

Cited by 4 publications

References 7 publications

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

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