Pseudohyperphalangism in Fetal Dilantin Syndrome

Wood, Beverly P.; Young, Lionel W.

doi:10.1148/131.2.371

Cited by 18 publications

(4 citation statements)

References 4 publications

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“…These findings resemble those seen with fetal hydantoin exposure ( Jones, 2006 ), and indeed patient 2 was given this diagnosis initially. Other evidence that could support this diagnosis is her mild growth deficiency and, although the absence of the proximal epiphyseal center of the pollex may be a more distinctive feature of TBS, this finding has also been observed rarely in presumed fetal hydantoin embryopathy ( Wood and Young, 1979 ; Johnson and Goldsmith, 1981 ). However, the clinical diagnosis of TBS was made because her craniofacial features and hallux appearance more closely matched the observations made previously in other affected individuals with TBS, with this diagnosis validated molecularly upon the recent identification of the causative gene; both patients characterized in this report harbor pathogenic mutations ( Simons et al , 2014 ).…”

Section: Discussionmentioning

confidence: 85%

Two cases of Temple–Baraitser syndrome

Shen

2015

Clinical Dysmorphology

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This study reports on two individuals with Temple–Baraitser syndrome, manifesting typical hallux and pollex findings, global developmental delay, and seizures. In the five previous cases identified to date, consistent craniofacial and osseous characteristics have been observed. The children described herein exhibit minor differences within this phenotype and are older, highlighting the phenotypic variability and natural history of the clinical and radiographic findings.

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Section: Discussionmentioning

confidence: 85%

Two cases of Temple–Baraitser syndrome

Shen

2015

Clinical Dysmorphology

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“…Distal hyperphalangism has been observed in siblings with fetal dilantin syndrome. 16 We have observed personally 16 cases of hyperphalangism in the past 25 years. 18 We consider this an uncommon congenital anomaly.…”

Section: Discussionmentioning

confidence: 98%

An Unusual Case of Hyperphalangism Associated With Forearm and Elbow Anomalies

Wood

1998

Hand Surg.

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Hyperphalangism is characterized by an extra phalanx between the phalanges of a finger, usually excluding the thumb. This abnormality is distinguished from Polydactyly and polyphalangism in that the hand has more phalanges in the fingers and no extra fingers. Because the digits are small and short, a better term to describe this abnormality would be "brachyhyperphalangism", 7 but the term is cumbersome and unpopular.We have reviewed the world literature up to the present time and have never seen reported elbow abnormalities associated with hyperphalangism. CASE REPORTThis 8-year-old boy has been followed by us in our office for two years. He first presented to us at age six. Since birth he has had elbow problems with no history of trauma. X-rays of the hands are very similar bilaterally. He has a shortened metacarpal with four phalanges in the long finger. The index, ring and little fingers appear to be normal. The ring finger appears long when compared to the abnormal long finger (Fig. 1). There was no family history of similar anomalies. At age seven-and-a-half, the child returned to the office complaining of difficulty in extending the forearm. His range of motion of supination, pronation and flexion was essentially normal and full. He lacked 25° of full extension bilaterally. The left ulna was short with a significant radial bow (Fig. 2). The right arm showed a short ulna with a posterior dislocation of the radial head (Fig. 3). In the future the Ilizarov technique could be used to lengthen both ulnar bones and straighten the radius in each arm.

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“…The involved digits were tapered and the nails were dyplastic. 10 The phalangeal anomalies were demonstrated to be present at birth, and the phalanges never developed epiphyses, suggesting that the abnormality is caused by the division of an otherwise normal phalanx and not a true hyperphalangism, that is, a pseudohyperphalangism. Experimental studies on rats have demonstrated that anticonvulsant drugs may interfere with the regulation of chondrocyte activity and matrix synthesis.…”

Section: Thalidomidementioning

confidence: 99%

Drug-Induced Metabolic Bone Disorders

Lawson¹

2002

Semin Musculoskelet Radiol

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A number of drugs, either physician prescribed or those taken without the knowledge of the physician, may have metabolic effects on, and result in abnormal changes in, the musculoskeletal system. These medications may involve the developing fetus, infant, child, or adult and may manifest as drug-induced embryopathies, osteoporosis, osteomalacia, or rickets, or a combination of these, or they may be associated with proliferative changes. Not uncommonly, the radiologist may be the first physician to identify the metabolic manifestations of these medications. The radiological changes associated with such drugs will be reviewed. Certain drugs may have teratogenic effects, nonteratogenic effects, or both. These effects, dependent solely on the timing of administration, will be discussed separately.

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Pseudohyperphalangism in Fetal Dilantin Syndrome

Abstract: Apparent distal hyperphalangism was observed in three siblings with fetal Dilantin syndrome. Other stigmata of this syndrome were also present. The anomaly in these patients was cuased by division of an otherwise normal phalanx, as opposed to the case in true hyperphalangism.

Cited by 18 publications

References 4 publications

Two cases of Temple–Baraitser syndrome

Two cases of Temple–Baraitser syndrome

An Unusual Case of Hyperphalangism Associated With Forearm and Elbow Anomalies

Drug-Induced Metabolic Bone Disorders

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