✦ LIBER ✦

Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients?

✍ Scribed by Donadio, A.; Garavelli, L.; Banchini, G.; Neri, G.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 8 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000313)91:2<164::aid-ajmg19>3.0.co;2-e

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pulmonary agenesis, microphthalmia, and

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

✍ Berkenstadt, Michal; Lev, Dorit; Achiron, Reuven; Rosner, Mordechay; Barkai, Gad 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

We present the prenatal diagnosis of a 22week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described prev

Diaphragmatic defects, limb deficiencies

Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome

✍ Froster, Ursula G.; Kolditz, Petra; Wisser, Josef; Robbiani, Mario B.; Stallmach 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes

Cerebellar and brainstem “atrophy” in a

Cerebellar and brainstem “atrophy” in a patient with Kabuki make-up syndrome

✍ Yano, Shoji; Matsuishi, Toyojiro; Yoshino, Makoto; Kato, Hirohisa; Kojima, Kazuy 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Fig. 1. The patient at 8 years of age showing typical facial features of Kabuki make-up syndrome (A); a brain MRI study revealed cerebellar and brainstem atrophy (B-D).

Ectodermal abnormalities in Kabuki syndr

Ectodermal abnormalities in Kabuki syndrome

✍ Lerone, Margherita; Priolo, Manuela; Naselli, Arturo; Vignolo, Marina; Romeo, Gi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormal

Biliary atresia in Kabuki syndrome

✍ McGaughran, Julie M.; Donnai, Dian; Clayton-Smith, Jill 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 3 KB 👁 1 views

Frequency of Y chromosomal material in M

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome

✍ L�pez, Marisol; Canto, Patricia; Aguinaga, M�nica; Torres, Leda; Cervantes, Alic 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has de