[…] corpus callosum with peripheral neuropathy (Andermann syndrome) SLC26A2 Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia SLC29A3 Dysosteosclerosis, Histiocytosis-lymphadenopathy [genda.com.ar]

Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Abnormalities, Multiple / diagnosis* Adult Cardiomegaly / etiology Collagen Diseases / etiology, physiopathology Female Fetal Movement Genes, Lethal Humans [biomedsearch.com]

Eye malformations (congenital cataracts and corneal ulceration). Postural and limb deformities are present in the variant forms. Intrauterine growth restriction (IUGR). Short umbilical cord. [fetalultrasound.com]

[…] leprechaunism, megalocornea with multiple skeletal anomalies, Möbius syndrome, nemaline myopathy, oculodentodigital syndrome, ophthalmomandibulomelic dysplasia, orocraniodigital syndrome, otopalatodigital syndrome, Pfeiffer syndrome, Prader-Willi habitus /osteoporosis [emedicine.medscape.com]

Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease MYH7 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage NEB Nemaline myopathy OCRL [genda.com.ar]

The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. [ncbi.nlm.nih.gov]

The two-dimensional (2D) ultrasound showed a 24 weeks fetus in breech presentation, with ascites and subcutaneous edema (suggestive of fetal hydrops) [Figure 1] a, large multi septate cystic hygroma [Figure 1] b, short humerus, bilateral pleural effusion [jfmpc.com]

The classification byHall [1984] is based on clinical findings, the onset of in-trauterine growth retardation, and the timing and ex-tent of neck swelling, as well as the presence or absenceof bony fusions and errors of bone modelling. [docslide.com.br]

Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs. Three variants are described (2): Bartsocas-Papas syndrome (lethal popliteal syndrome). [fetalultrasound.com]

(c,d) Right pleural effusion with pulmonary hypoplasia. [perinataljournal.com]