TH-SHFM associated with fatal pulmonary hypertension and congenital alveolar capillary dysplasia is reported in a consanguineous Turkish family. CHD seen in our case was a large membranous ventricular septal defect. [medigoo.com]

GÖKKAYA, Nilüfer Kutay Ordu; UÇAN, Halil; UÇKUN, Aslı Çalışkan; ALANAY, Yasemin // Turkish Journal of Physical Medicine & Rehabilitation / Turkiye ; Sep2011, Vol. 57 Issue 3, p178 Beals Hecht syndrome, also known as congenital contractural arachnodactyly [connection.ebscohost.com]

Expanded coverage and rigorous updates—including 40 online-only chapters—keep you current with the latest advances in cartilage repair and regeneration, allograft and autografts, computer robotics in total knee arthroplasty, and other timely topics. [books.google.es]

Severe lower limb malformation associated with other deformities and death in infancy in two brothers. J Med Genet. 1977;14:352–4. CrossRef PubMed PubMedCentral Google Scholar 17. Mahjlondji M, Farpour H. An unusual deformity in an inbred community. [link.springer.com]

Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]

It has been described in other conditions, but it is usually associated with an absent hallux. [jim.bmj.com]

Pelvic hypoplasia, congenital hip dislocation, and absence or coalescence of the tarsal bones are additional findings. A peculiar constellation of abnormalities, sharing similarities with the syndromes of Fuhrmann and Al-Awadi/Raas- Fig. 5.34 a, b. [rrnursingschool.biz]

Sexual Development 8(4): 156-159, 2015 Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. [m.eurekamag.com]

[…] disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe lateral tibial bowing with short stature Severe motor and intellectual disabilities-sensorineural deafness-dystonia [se-atlas.de]