Abstract We present a large Turkish family with autosomal dominant inherited ulnar-mammary syndrome in which 10 affected family members, spanning three generations, were diagnosed. [ncbi.nlm.nih.gov]

Hypoplasia Of Apocrine Glands Hypoplasia Of Mammary Glands Hypogonadism Türk Pediatri Arşivi; Yıl: 1998 Cilt: 33 Sayı: 4 ISSN : 1306-0015 Language : tur Type : Journal Article In AGRIS since : 2016 Publisher : Galenos Yayınevi All titles : " The First Turkish [agris.fao.org]

J Med Genet 24(12):778–781 PubMedCentral PubMed CrossRef Google Scholar Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M (2002) Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. [link.springer.com]

Am J Med Genet 2002; 110 : 365–369. 9 Wollnick B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M : Haploinsufficiency of TBX3 causes ulnar–mammary syndrome in a large Turkish family. [doi.org]

Hormonal testing revealed euthyroid hyperthyrotropinemia (TSH   14.1 mU/L, n.v. 0.27–4.0, FT4   17.9 pmol/L, n.v. 11.5–24.5) with negative anti-thyroid antibodies and without signs of thyroiditis on ultrasound. [ncbi.nlm.nih.gov]

DESCRIPTION CS presented shortly after birth with absent left third, fourth, and fifth fingers, a flexed left elbow with an antecubital pterygium, and hypoplastic inverted, widely spaced nipples. [ncbi.nlm.nih.gov]

She reported delayed menarche (at 13.9 years). Kidney, ovary and uterus abnormalities were ruled out by transabdominal US. The circulating TSH was 4.42 mU/L with normal FT4 (13.7 pmol/L) and negative anti-thyroid antibodies. [ncbi.nlm.nih.gov]