On macroscopic examination, the spectrum of gyral abnormalities ranged from asymmetrical abnormal coarse perisylvian gyri with largely opened sylvian fissures to diffuse (4/6) polymicrogyria-like cortical dysplasia.
Hajdu Cheney syndrome is characterized by acro-osteolysis, short neck, short stature, coarse face, dental anomalies, renal abnormalities (cystic kidney disease and hypoplastic kidneys), cardiac anomalies, hepatosplenomegaly, hydrocephalus and cleft palate [ 31, 32].
This is due to heterozygous mutations in GLI3 (Gli-Kruppel famemberember 3) in chr 7p [ 29, 30 ]. Hajdu Cheney syndrome is characterized by acro-osteolysis, short neck, short stature, coarse face, dental anomalies, renal abnormalities (cystic kidney disease and hypoplastic kidneys), cardiac anomalies, hepatosplenomegaly, hydrocephalus and cleft palate [ 31, 32 ].
If we found abnormal conditions, such as tubercle, coarse voice, ulcer in the nasopharynx, enlarged lymph nodes in the upper part of neck or serological tests of obvious abnormalities, fiberoptic endoscopy and pathological biopsy were performed by otorhinolaryngologists to diagnose NPC.
Coarse facial features were the most predominant characteristic of all functional and anatomic abnormalities for both the Hurler and the Hurler Scheie phenotypes, occurring in 86.4 and 72.7% of these patients, respectively.
Resolution is the main limitation of this technique; the coarse aberration profile obtained by karyotyping is not sensitive enough to detect short, yet relevant, abnormalities [ 4].
The presenting signs typically include coarse facial features; respiratory obstruction caused by enlarged tongue, tonsils, and adenoids; joint stiffness and skeletal abnormalities; and enlarged liver and spleen [ 15– 17].
Pleural-line abnormalities were defined by the thickness of pleural line greater than 2 mm or its coarse appearance, eventually associated with abolished lung sliding, explained by inflammatory adherences due to exudates.
They rapidly develop progressive and severe neurological deterioration causing hyperactivity, sleep disorders, loss of speech accompanied by behavioral abnormalities, neuropsychiatric problems, mental retardation, hearing loss, and visceral manifestations, such as mild hepatomegaly, mild dysostosis multiplex, mild coarse facies, and hypertrichosis [2], [3].
