Anatomic determinants of sacral
dysmorphism and implications for safe iliosacral screw placement.
Char syndrome is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial
dysmorphism and abnormalities of the fifth finger of the hand (1).
Holoprosencephaly (HPE) is the most common structural anomaly of the development of human's forebrain, resulting from incomplete midline cleavage of the prosencephalon, associated with neurologic impairment and
dysmorphism of the brain and face, due to disturbance of the delicate balance of signals required for proper separation of the cerebral hemispheres.
Karyotyping and other genetic tests were obtained in patients with family history of GDD and
dysmorphism.
Rosen, a noted research psychologist and author of Rewired: Understanding the iGeneration and the Way they Learn, brings together a wealth of new research (some of which he's done himself with colleagues) to examine the over-reliance on gadgets and websites that can produce or mimic common psychological maladies like depression, obsessive-compulsive disorder, ADHD, narcissistic personality disorder, body
dysmorphism, voyeurism and addiction.
Kadurina, 2000; Stepura, 1999) reported that dysmenorrhea is one of many manifestations of connective tissue
dysmorphism or dysplasia (CTD) which is mostly based in congenital or acquired prolonged deficiency of intracellular magnesium.
Such syndromes may be associated with pigmentary anomalies, facial
dysmorphism, short stature, congenital heart defects, neurocognitive defects, and predisposition to malignancy.
At the age of thirteen months the boy had an abnormal body proportion (the trunk was unproportionately long in relation to the limbs), facial
dysmorphism, disproportion between the cranial and facial bones (a large head with a prominent forehead) (Fig.
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.
With respect to clinical findings, this clinical case presented: macroscopic hematuria, WBC casts with erythrocyte
dysmorphism in urine at 60%, which shows the glomerular origin of the hematuria.
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).
