3,5,12) Familial screening is recommended for patients with isolated left ventricular noncompaction, including evaluation for associated facial dysmorphisms
and neuromuscular disorders.
Additionally his paternal grandmother has typical facial dysmorphism
, a small PDA, and polythelia.
Genesis of alcohol-induced craniofacial dysmorphism
Of the 64 cases of malformations in topiramate-exposed pregnancies reported to the Food and Drug Administration's Adverse Event Reporting System (AERS), almost 33% (21 cases) were craniofacial abnormalities, which included 11 reports of cleft lip and/or palate reports, 6 reports of facial dysmorphism
, 4 reports of micrognathia, 3 cases of skull deformation and ossification abnormalities, and 1 case of macroglossia.
Presenting complaint Other features 1 Increasing head size Obstructive hydrocephalus, optic atrophy 2 Failure to thrive, distension of Optic atrophy abdomen 3 Anaemia, distension of abdomen Optic atrophy 4 Noisy breathing, prominent eyes, -- bleeding spots 5 Inability to focus, anaemia Optic atrophy 6 Anaemia, previous sib died of -- osteopetrosis 7 Visual impairment, Hypocalcemic seizures, jaw osteomyelitis optic atrophy 8 Anaemia Facial dysmorphism
, optic atrophy Table II.
MAS patients are generally young (<20 years; our patient was 18 years old) at the onset and diagnosed on the basis of growth acceleration rather than facial dysmorphism
(often difficult to assess, as in our patient, because of fibrous dysplasia) (3,4).
FAS is caused by prenatal exposure to alcohol and includes some or all of the following features: facial dysmorphism
, prenatal and/or postnatal growth retardation, and neurological, cognitive and behavioural abnormalities.
Cytogenetically detectable interstitial deletions at 5g22 have been reported in FAP patients exhibiting some degree of mental retardation and dysmorphism