✦ LIBER ✦

Mild autosomal dominant hypophosphatasia: In utero presentation in two families

✍ Scribed by Moore, Cynthia A.; Curry, Cynthia J.R.; Henthorn, Paula S.; Smith, John A.; Smith, J. Charles; O'Lague, Patricia; Coburn, Stephen P.; Weaver, David D.; Whyte, Michael P.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 35 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991029)86:5<410::aid-ajmg3>3.0.co;2-0

No coin nor oath required. For personal study only.

✦ Synopsis

We describe four pregnancies in two families in which mild hypophosphatasia, apparently transmitted as an autosomal dominant trait, manifested in utero as severe long bone bowing. Postnatally, there was spontaneous improvement of the skeletal defects. Recognition of this presentation for hypophosphatasia by family investigation and assessment of the fetal skeleton for degree of ossification and chest size using ultrasonography is important. The prognosis for this condition is considerably better than for more severe forms of hypophosphatasia and for many other disorders that cause skeletal defects with long bone bowing in utero. Am. J. Med. Genet. 86:410-415, 1999.

📜 SIMILAR VOLUMES

Melorheostosis in a family with autosoma

Melorheostosis in a family with autosomal dominant osteopoikilosis

✍ Nevin, Norman C.; Thomas, Paul S.; Davis, Richard I.; Cowie, G. Harry 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autos

Autosomal dominant hypohidrotic ectoderm

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family

✍ Aswegan, Andrew L.; Josephson, Kevin D.; Mowbray, Rodney; Pauli, Richard M.; Spr 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 2 views

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were

Mild hypophosphatasia mimicking severe o

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken

✍ Pauli, Richard M.; Modaff, Peggy; Sipes, Susan L.; Whyte, Michael P. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

We describe a fifth instance of hypophosphatasia presenting with prenatal findings suggestive of a very severe bone dysplasia but with a subsequently benign course. Spontaneous improvement of long-bone angulation began prenatally. The postnatal course has been encouraging. This sixth clinical form o

Andersen syndrome autosomal dominant in

Andersen syndrome autosomal dominant in three generations

✍ Can�n, Sonia; P�rez, Nohem�; Beirana, Luisa G. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 2 views

Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe sys

Autosomal dominant transmission of famil

Autosomal dominant transmission of familial laterality defects

✍ Casey, B.; Cuneo, B. F.; Vitali, C.; van Hecke, H.; Barrish, J.; Hicks, J.; Ball 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development. Most familial cases are thought to be autosomal recessive. We have identified a family in which 4 individuals from 3 generations manifest laterality defects. Twenty-five family members have been ex

Familial chordoma with probable autosoma

Familial chordoma with probable autosomal dominant inheritance

✍ Stepanek, Jan; Cataldo, Steven A.; Ebersold, Michael J.; Lindor, Noralane M.; Je 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

## To the Editor: Chordomas are rare, clinically malignant tumors derived from notochordal remnants which occur along the length of the spinal axis predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extensio