Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2007 Apr;16(2):105-107.
doi: 10.1097/MCD.0b013e3280147217.

Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family

Lihadh Al-Gazali  1 , Raveendra Nath, Durdana Iram, Hadi Al Malik
Affiliations
Case Reports

Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family

Lihadh Al-Gazali et al. Clin Dysmorphol. 2007 Apr.

Abstract

We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

PubMed Disclaimer

References

    1. Aase JM, Wilroy SR 1988. The Finlay-Marks syndrome: report of a new case and review of the literature. Proc Greenwood Genet Center 7:177–178.
    1. Al-Gazali LI, Hamid Z, Hertecant J, Bakir M, Nath D, Kakadekar A 2002. An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, another syndrome and methimazole emberyopathy. Clin Dysmorphol 11:79–85.
    1. Baris H, Tan W, Kimonis VE 2005. Hypothelia, syndactyly, and ear malformation- a variant of the scalp-ear-nipple syndrome? Case report and review of the literature. Am J Med Genet 134A:220–222.
    1. Edwards MJ, McDonald D, Moore P, Rae J 1994. Scalp-ear-nipple syndrome: additional manifestations. Am J Med Genet 50:247–250.
    1. Finlay AY, Marks R 1978. An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples. Br J Dermatol 99:423–430.

Publication types