𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Perrault's syndrome in two sisters

✍ Scribed by Bösze, Péter ;Skripeczky, Katalin ;Gaśl, Magdolna ;Tóth, András ;László, János ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
249 KB
Volume
16
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf‐mute and to normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome constitution. The parents were apparently not consanguineous. The mother had normal hearing. Other relatives were not available for study. Epilepsy, Which occurred in three relatives including one of the index patients, may have been inherited coincidentally from the mother's family.

📜 SIMILAR VOLUMES

Perrault syndrome in sisters
Perrault syndrome in sisters
✍ McCarthy, Dennis J. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 1 views
Wiskott-Aldrich syndrome in two sisters
Wiskott-Aldrich syndrome in two sisters
✍ Kondoh, Tatsuro; Matsumoto, Tadashi; Tsuji, Yoshiro 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 2 views

Briefly, we described 2 sisters in a family representing manifestations of Wiskott-Aldrich syndrome (WAS). The older sister had suffered from recurrent infections, small-sized thrombocytopenia, petechiase and purpura, and eczema for 7 years. The younger sister had the same manifestations, and died o

Two sisters with Escobar syndrome
Two sisters with Escobar syndrome
✍ Spranger, Stephanie ;Spranger, Matthias ;Meinck, Hans-Michael ;Tariverdian, Ghol 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 455 KB 👁 1 views

We report on 2 sisters with an autosomalrecessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular d

Mild form of Jeune syndrome in two siste
Mild form of Jeune syndrome in two sisters
✍ Giorgi, P. L. ;Gabrielli, O. ;Bonifazi, V. ;Catassi, C. ;Coppa, G. V. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB 👁 1 views
Two sisters with Toriello-Carey syndrome
Two sisters with Toriello-Carey syndrome
✍ Chinen, Yasutsugu; Tohma, Takaya; Izumikawa, Yoshinori; Taketomi, Hirohisa; Iha, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as