Results 21 to 30 of about 1,022 (104)

Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies

Gynecology Obstetrics & Reproductive Medicine, 2007
Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics.
Füsun Düzcan, Hacer Ergin, Melike Aytan, Emre Tepeli, Özmert Özdemir, Seher Başaran   +5 more
doaj  

Deformed nail from stress related to childbearing

Journal of General and Family Medicine, 2020
Ryuichi Ohta
doaj   +1 more source

Idiopathic onychomadesis. [PDF]

BMJ Case Rep, 2023
Arun Babu T, Nagendran P.
europepmc   +1 more source

Median canaliform dystrophy of Heller presenting as a body-focused repetitive behaviour. [PDF]

BMJ Case Rep, 2023
Pinto CJ, Maldar SB, Wari PK.
europepmc   +1 more source

Isolated Congenital Hyponychia and Anonychia in a Neonate: A Rare Case. [PDF]

Cureus
Tanti S, Jhajra S, Harshini V, Kumar A.
europepmc   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome. [PDF]

Clin Case Rep
Bolzon A, Caroppo F, Passaglia L, Boaretto F, Salviati L, Belloni Fortina A.   +5 more
europepmc   +1 more source

Early diagnosis and neonatal management of Turner syndrome with disproportionate short stature and coarctation of the aorta. [PDF]

BMJ Case Rep
Alhasni F, Rahmath MR, Bayoumi MAA, Elmalik EE.   +3 more
europepmc   +1 more source

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome. [PDF]

J Family Med Prim Care
Goswami M, Johnson RM, Rimshheanam.
europepmc   +1 more source

Puffy fingers and abnormal nail fold capillaries. [PDF]

CMAJ, 2023
Yin H, Lin W, Lu L.
europepmc   +1 more source

A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications. [PDF]

Indian J Plast Surg
Mohan M, Sabapathy SR.
europepmc   +1 more source