Brachydactyly type A‐4 (Temtamy type) with short stature in a Japanese girl and her mother

Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism.

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“…Ohzeki et al . [ 25 ] reported this form of brachydactyly in a Japanese mother and daughter who were also short of stature.…”

Section: Types Of Isolated Brachydactylymentioning

confidence: 99%

Brachydactyly

Temtamy

Aglan

2008

Orphanet J Rare Dis

140

148

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“…The syndrome of brachydactyly A4 is exceedingly rare, and we were able to find only 4 such reports [Jeanselme and Joannon, 1923;Temtamy and McKusick, 1978;Ohzeki et al, 1993;Reichenbach et al, 1993]. In addition to brachydactyly, one patient had short stature and microcephaly (Ohzeki, personal communication), the mother reported by Reichenbach et al [1993] had atypical Madelung deformity and metatarsal exostosis, and her son had cervical ribs and persistent spheno-frontal and spheno-occipital synchondrosis.…”

Section: Introductionmentioning

confidence: 71%

“…This figure is close to that obtained for the entire group when ascertainment was corrected by excluding the propositus (16.6%). If we include the partially expressed cases of Ohzeki et al [1993], Reichenbach et al [1993], Piussan et al [1983], and Barber et al [1990], the incidence of GI atresias appears considerably lower.…”

Section: Discussionmentioning

confidence: 96%

“…With the exception of the cases of Jeanselme and Joannon [1923] and Temtamy and McKusick [1978], which are incompletely documented, all other reported cases have findings suggestive of partially expressed MODED syndrome. Thus, one of the patients of Ohzeki et al [1993] had microcephaly and both had short stature. The patients reported by Reichenbach et al [1993] had hallux valgus, which was present in all our adult patients.…”

Section: Discussionmentioning

confidence: 96%

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MODED: Microcephaly-oculo-digito-esophageal-duodenal syndrome

Frydman

Katz

Cabot³

et al. 1997

Am. J. Med. Genet.

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We report on 4 families with microcephaly, type A brachydactyly, variable learning disabilities, short stature, duodenal atresia, patent ductus arteriosus (PDA), hallux valgus, restricted elbow and finger movements, and amesophalangy and syndactyly of toes. Three previous families manifested all signs of the syndrome, and in another four reports the phenotype was incomplete. These cases are reviewed. Penetrance of digital and toe anomalies is almost complete and microcephaly is present in 78% of known cases. Short stature was present in 70% of our cases, but this is probably an overestimation. Esophageal and duodenal atresias were present in 25% of known cases. Correction for ascertainment bias gave a lower estimate of 16.6%. Learning disabilities were present in 31% of all patients. Longitudinal follow-up suggested that hypoplasia or absence of the diaphyseal ossification centers is the primary cause of the phalangeal changes. Observations in a 9-year-old girl, followed since age 3.3, suggest that the eventual absence of the middle phalanges of the toes may be caused by fusion.

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“…引起BDA2 的原因 [15] , 此外, 20p12.3 上BMP2 基因调控区域的杂合重复也造成 BDA2 [16] 。 Kjaer等 [13] 将先天性仰趾外翻足和畸形足 [1] 。Ohzeki等 [18] 发现该表型患者还可表现为身材矮小。 2.1.5 A5 型(Brachydactyly type A5 with nail dysplasia, BDA5; MIM 112900)…”

Section: 分子遗传学unclassified

Advances in the molecular genetics of brachydactyly

Guo¹,

Liu²,

Deng³

2012

Hereditas (Beijing)

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Brachydactyly (BD) is a general term that refers to shortening of the hands/feet due to small or missing metacarpals/metatarsalsand/or phalanges, and forms part of the group of limb malformations characterized by bone dysostosis. It may occur either as an isolated trait or as part of a syndrome. BD may also be accompanied by other hand mal-formations, such as syndactyly, polydactyly, reduction defects, and symphalangism. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. For the majority of isolated BD and some syndromic forms of BD, the causative gene defect has been identified. These studies have shown that the bone morphogenetic protein (BMP) pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. This review summarizes the progress in the molecular genetics of BD, which will contribute to the BD pathogenic mechanism and implementation of genetic clinic.

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Brachydactyly type A‐4 (Temtamy type) with short stature in a Japanese girl and her mother

Cited by 5 publications

References 13 publications

Brachydactyly

Brachydactyly

MODED: Microcephaly-oculo-digito-esophageal-duodenal syndrome

Advances in the molecular genetics of brachydactyly

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