Examination was remarkable for facial dysmorphisms
(prominent eyebrows, low set ears, midfacial retrusion, and mild prognathism) (see Figure 1) and a genital exam that showed a micropenis.
In its original intention, the present work has been designed for pre-birth diagnosis of rare diseases manifesting facial dysmorphisms
. Labio-schisis presents high incidence and it is clearly detectable through ultrasound-scans when the foetus is affected.
(12), in their study on CT scans of pelvises opined that the prevalence of sacral dysmorphism
ranged from 30% to 50%.
Dominantly inherited digito-talar dysmorphism
. J Bone Joint Surg Br 1972; 54(3):509-515.
The main features of the syndrome are cognitive impairment, craniofacial dysmorphism
, gastrointestinal abnormalities, congenital heart defects, endocrine abnormalities, neuropathology leading to dementia, and immunological defects.
 reported SIDR in 95% of patients diagnosed with CdLS, skeletal anomalies in 81%, facial dysmorphism
in 50% and fetal diaphragmatic hernia in 50%.
These patients also experience chronic leg ulcers, facial dysmorphism
, and mental retardation.
Affected members show complex SHFM phenotype including tibial deficiency, palms dorsalization with cylindrical fingernails, craniofacial dysmorphism
,and hearing impairments.
Its administration to pregnant women was reported as having teratogenic effects, the new born children displaying behavioural disorders specific to autism (up at a rate of 60 %), and neural tube embryological development abnormalities, such as spina bifida, atrial septum defects, facial dysmorphism
, polydactyly, hypospadias, impaired growth, disorders grouped into the fetal valproic syndrome (17).
Such exposure can produce a variety of effects, including physical birth defects, growth retardation, and facial dysmorphism
, but the most profound effects are on the developing brain and accompanying cognition and behavior.
(7,8) In many instances noncompaction, when seen in children, is associated with neuromuscular abnormalities and facial dysmorphism
. (9) Several published reports suggest association of LVNC with poor left ventricular function, a high incidence of ventricular arrhythmias and systemic thromboembolism.