✦ LIBER ✦

Short stature, psychomotor retardation, and unusual facial appearance in two brothers

✍ Scribed by Smith, Richard D. ;Fineman, Robert M. ;Myers, Garth G. ;Optiz, John M.

Publisher: John Wiley and Sons
Year: 1980
Tongue: English
Weight: 287 KB
Volume: 7
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320070103

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Short stature, myopia, severe developmen

Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?

✍ Achermann, Sibylla; Largo, Remo; Kotzot, Dieter; Riegel, Mariluce; Schinzel, Alb 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 2 views

We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes.

Severe mental retardation, cataracts, sh

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

✍ Martsolf, John T. ;Hunter, Alasdair G. W. ;Haworth, James C. ;Herrmann, J. 📂 Article 📅 1978 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 1 views

Syndrome of congenital cataracts, sensor

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases

✍ Kim Keppler-Noreuil; Judy Welch; Katherine Baker-Lange 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB 👁 1 views

Microcephaly, colobomatous microphthalmi

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

✍ M�garban�, Andr�; Haddad-Zebouni, Soha; Nabbout, Rima; Khoury, Antoine H.; Trabo 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syn

Report of two brothers with short statur

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome?

✍ Shubha R. Phadke; Sheetal Sharda; Jill Urquhart; Emma Jenkinson; Shobhit Chawala 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB 👁 2 views

Endocardial fibroelastosis, neurologic d

Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly

✍ Jennings, Mark T. ;Hall, Judith G. ;Kukolich, Mary 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 387 KB 👁 1 views