Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
نویسندگان
چکیده
We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.
منابع مشابه
Auditory Functions In Oto-Palato-Digital Syndrome
The oto-palato-digital (OPD) syndrome is a rare X linked disorder characterized by generalized skeletal dysplasia. A case with major features of mild conductive hearing loss, with hyperteleorism, cleft soft palate, hand and foot abnormalities is presented. The evaluation of the auditory functions of case was performed by objective and subjective hearing tests with radiological findings of tempo...
متن کاملManaging agitation and aggression after head injury.
and hygiene at Ky-oto-Handwashing and sanitation need to be marketed as if they were consumer products.
متن کاملFrontline providers harbor misconceptions about the bedside evaluation of dizzy patients.
Acta Oto-Laryngologica Publication details, including instructions for authors and subscription information: http://www.informaworld.com/smpp/title~content=t713690940 Frontline providers harbor misconceptions about the bedside evaluation of dizzy patients David E. Newman-Toker a; Victoria A. Stanton b; Yu-Hsiang Hsieh c; Richard E. Rothman c a Departments of Neurology and Otolaryngology, The Jo...
متن کاملMonozygotic twins discordant for rubinstein-taybi syndrome.
A pair of male monozygotic twins discordant for Rubinstein-Taybi syndrome is reported. Monozygosity of the twins was established using blood grouping, typing of serum proteins, isozymes, HLA, and chromosomal heteromorphisms. The twins are the first twin pair discordant for the syndrome in which monozygosity has been firmly established. The pathogenesis of the syndrome is discussed in relation t...
متن کاملProto - Lolo - Burmese velar clusters and the origin of Lisu palatal sibilants
Standard Northern Lisu has two series of palatal sibilants: (alveolo-)palatals [t ̊ t ̊æ d ̊ ] and palato-alveolars [t∆ t∆æ dÔ ∆ Ô]. The phonemic status of the latter is questionable, since they are in complementary distribution with the former, occurring only before vowels [u] and [Ω]. The vowel [Ω] is itself in complemetary distribution with [i], occurring only after the palatoalveolars. Thus ...
متن کامل