✦ LIBER ✦

Down syndrome: Perinatal complications and counseling experiences in 216 patients

✍ Scribed by Spahis, Joanna K.; Wilson, Golder N.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 21 KB
Volume: 89
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990625)89:2<96::aid-ajmg7>3.0.co;2-4

No coin nor oath required. For personal study only.

✦ Synopsis

Two hundred and sixteen infant evaluations were selected for analysis from those of 669 outpatients (930 total visits) at a weekly Down syndrome clinic. Each record contained perinatal history and physical examination results, and 191 of the 216 included a systematic interview regarding parental experiences with diagnosis and counseling. Gastrointestinal problems (77% of neonates), cardiac anomalies (38%), and hematologic problems (11%) were the most common complications; cited problems included anal stenosis (11%), which is described as a newly recognized cause of constipation in early infancy. Counseling experiences were positive in 66 (34%) of the 191 parent interviews, with counselor knowledge, timing, setting, and attitudes being cited as key factors. Appropriate counseling and surveillance for gastrointestinal problems can greatly facilitate parental adjustment to the neonate with Down syndrome.

📜 SIMILAR VOLUMES

Townes-Brocks and Pendred syndrome in th

Townes-Brocks and Pendred syndrome in the same patient

✍ Yano, Shoji; Watanabe, Yoriko; Yoshino, Makoto; Aida, Katsumaro; Kato, Hirohisa 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB

However, these patients did not have ear anomalies, anal lesions, or deafness suggestive of TBS or PS. Because PS is thought to be heterogeneous, the occurrence of the two syndromes together may constitute a contiguous gene syndrome in this particular case.

Genetic counseling in Angelman syndrome:

Genetic counseling in Angelman syndrome: Gonadal mosaicism

✍ Stalker, Heather J.; Williams, Charles A.; Wagstaff, Joseph 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB

Recently we published a review about genetic counseling and the provision of risk information in Angelman syndrome (AS) ]. However, since then, new evidence indicates that gonadal mosaicism may affect recurrence risk in the subset of AS patients who are affected as the result of UBE3A gene mutations

Relatively longer hand in patients with

Relatively longer hand in patients with Ullrich-Turner syndrome

✍ Uematsu, Ayumi; Yorifuji, Tohru; Muroi, Junko; Yamanaka, Chutaro; Momoi, Toru 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

We analyzed the total hand length (HL) and length of noncarpal bones (NCL) in 50 Japanese patients with Ullrich-Turner syndrome (UTS) and in 443 other patients with short stature used as controls. In each patient group we calculated relative HL (RHL= HL/ height) and relative NCL (RNCL= NCL/ height).

Metacarpophalangeal pattern profile in M

Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients

✍ de Oliveira Sobrinho, Ruy Pires; Moretti-Ferreira, Danilo; Contini, Andréia; Nor 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB

## Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan-like (marfanoid) clinical presentations are commonly found. The metacarpophal

Stipulations and Complications

✍ Willis, Becki 📂 Fiction 📅 2016 🏛 Clear Creek Publishers 🌐 English ⚖ 173 KB 👁 1 views

Stipulations and Complications

✍ Willis, Becki 📂 Fiction 📅 2016 🏛 Clear Creek Publishers 🌐 English ⚖ 173 KB 👁 1 views