✦ LIBER ✦

Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities

✍ Scribed by Devriendt, Koenraad; van den Oord, Joost; De Vos, Rita; Van den Berghe, Herman; Fryns, Jean-Pierre

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 64 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960111)61:2<127::aid-ajmg4>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis

In this report, we describe a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis, born to consanguineous Turkish parents. The histological finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells is unique, and hitherto has not been reported in other ichthyosismental retardation syndromes.

📜 SIMILAR VOLUMES

X-linked mental retardation syndrome wit

X-linked mental retardation syndrome with characteristic ?coarse? facial appearance, brachydactyly, and short stature maps to proximal Xq

✍ Carpenter, Nancy J.; Qu, Yong; Curtis, Mary; Patil, Shivanand R. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

We describe a three-generation family in which X-linked mental retardation (XLMR) is associated with minor facial anomalies and brachydactyly. Two brothers and four nephews have "coarse" facial appearance, brachydactyly with widening of the distal phalanges, short stature, and moderate mental retard

Progeroid syndrome with characteristic f

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

✍ Giannotti, Aldo; Digilio, Maria Cristina; Mingarelli, Rita; Marino, Bruno; Dalla 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son.

Autosomal recessive syndrome of growth a

Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome

✍ Orrico, Alfredo; Hayek, Giuseppe; Burroni, Luca 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in

Apparently new syndrome of congenital ca

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

✍ Gripp, Karen W.; Nicholson, Linda; Scott, Charles I. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.

Craniotubular dysplasia with severe post

Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-Like syndrome

✍ Nishimura, Gen; Harigaya, Akira; Kuwashima, Makoto; Kuwashima, Shigeko 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050)

Young-Simpson syndrome: Further delineat

Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation

✍ Masuno, Mitsuo; Imaizumi, Kiyoshi; Okada, Toshihisa; Adachi, Masanori; Nishimura 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl wi