klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

Cleidocranial dysplasia is a autosomal dominant inherited disorder, and it is the primary disorder of the bone. When the clinicians’ suspect this syndrome, they check for the presence of clavicles. In the literature, yet several other features are reported. Several researches including Chromosomal studies and dermatoglyphics are carried out, for the prevention and management strategies’. This r...

Cleidocranial dysplasia is a rare autosomal disorder which manifests as partial or complete absence of clavicles, multiple supernumerary teeth, and delayed closure of fontanelle. Classical cases of cleidocranial dysplasia are easily diagnosed very early in the life. However, cases with partial manifestation of the syndrome and noncontributory family history are difficult to diagnose. Here, we r...

Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.

The first three disorders discussed are abnormalities of bone: too little bone in cleidocranial dysplasia caused by mutations in RUNX2; too much bone in fibrodysplasia ossificans progressiva with overexpression of BMP4; and abnormal bone in McCune-Albright syndrome and fibrous dysplasia caused by mutations in GNAS1. Disorders of the sonic hedgehog signaling network are discussed next, including...

the yunis-varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. the molecular genetic basis is unknown. here, we report an...

Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of mo...

Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...