Preferred Label : Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications,
and deafness;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Agarwal et al. (2005) reported on a single patient with a previously undescribed form
of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening,
distal ulnar epiphyseal and pubic punctate calcifications (stippling), megaepiphyses,
platyspondyly, anterior beaking of the vertebrae, and sensorineural hearing loss.
They compared the features of this case with those of other forms of skeletal dysplasia,
particularly the mesomelic, acromesomelic, and megaepiphyseal (megaesophageal) disorders.
The patient had been diagnosed as having achondroplasia at birth. His parents and
2 brothers were of normal stature. Progressive sensorineural hearing loss began in
the seventh grade and subsequently required the use of hearing aids. At the age of
16, he developed frequent left patella dislocations. At age 22, he suffered detachment
of his left retina. At age 45, he had myopia in the left eye and presbyopia in both
eyes. His height was 120 cm. No facial dysmorphic features were noted. He had prominent
mesomelic shortening with a lesser degree of rhizomelic shortening of the arms. There
was limited rotation at the elbows, and both hands were ulnar deviated. No molecular
studies were reported. *FIELD* RF 1. Agarwal, V. K.; Lachman, R. S.; Rimoin, D. L.;
Wilcox, W. R.: Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia,
punctate calcifications, and deafness. Am. J. Med. Genet. 136A: 233-241, 2005. *FIELD*
CS Isolated cases;
Inheritance : Isolated cases;
Prefixed ID : 609616;
Origin ID : 609616;
UMLS CUI : C1865022;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
