✦ LIBER ✦

VACTERL with hydrocephalus and branchial arch defects: Prenatal, clinical, and autopsy findings in two brothers

✍ Scribed by Froster, U. G.; Wallner, S. J.; Reusche, E.; Schwinger, E.; Rehder, H.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 32 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960315)62:2<169::aid-ajmg10>3.0.co;2-m

No coin nor oath required. For personal study only.

✦ Synopsis

VACTERL association is defined as a combination of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies, in particular radial defects. In recent years hydrocephalus was observed in patients with apparent VACTERL association. This particular condition was recognized as a hereditary entity with poor prognosis. Both auto-soma1 recessive and X-linked forms were described. Here we report prenatal, clinical and autopsy findings in 2 brothers with this syndrome, who had, in addition, branchial arch anomalies. The recurrence in this family suggests X-linked inheritance. Branchial arch defects have so far not been described as part of the VACTERL + H syndrome. This observation further supports that a variety of brain anomalies including hydrocephalus associated with VACTERL anomalies represents separate entities with a considerable recurrence risk. The use of the term VAC-TERL "association" for these conditions is misleading and is discouraged.

📜 SIMILAR VOLUMES

VACTERL with hydrocephalus: Family with

VACTERL with hydrocephalus: Family with X-linked VACTERL-H

✍ Lomas, Fred E.; Dahlstrom, Jane E.; Ford, Judith H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/ 3), and cardiac abnormalities (1/3).

Fanconi anemia in brothers initially dia

Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

✍ Rossbach, Hans-Christoph; Sutcliffe, Maxine J.; Haag, Mary M.; Grana, Nanette H. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

T w o brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thr

Ventriculomegaly with radial and renal d

Ventriculomegaly with radial and renal defects: Prenatal diagnosis in two consecutive sibs

✍ Kovács, Tamás; Csécsei, Károly; Szabó, Mária; Tóth, Zoltán; Veress, Lajos; Papp, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly. We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unpara

Prenatally diagnosed neural tube defects

Prenatally diagnosed neural tube defects: Ultrasound, chromosome, and autopsy or postnatal findings in 212 cases

✍ Kennedy, Debra; Chitayat, David; Winsor, Elizabeth J.T.; Silver, Meredith; Toi, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

From January 1990 until December 1996, 212 cases of neural tube defect (NTD) were seen through the Prenatal Diagnosis Program of the University of Toronto. Of the 212 cases, 200 were karyotyped successfully and of these, 13 (6.5%) had chromosome abnormalities. When classified according to the site o

Grebe syndrome: Clinical and radiographi

Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers

✍ Costa, Teresa; Ramsby, Gale; Cassia, Fatima; Peters, Klaus-Ruediger; Soares, Jos 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, Brazil. The phenotype is characterized by a normal axial skeleton and severely shortened and deformed limbs, with a proximo-distal gradient

Delineation of the common critical regio

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

✍ Wu, Yuan-Qing; Sutton, V. Reid; Nickerson, Elizabeth; Lupski, James R.; Potocki, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other gene