The present case makes a total of 14 cases of the cloverleaf skull syndrome reported in the Japanese literatures to date. Major clinical and pathologic findings of these cases were summerized. [ncbi.nlm.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

• Receding Chin

  The nose was normal with a relatively large mouth (macrostomia), a high arched palate, prominent upper jaw (superior prognathism), and a receding chin (micrognathia) [Figure - 1]. [ijo.in]

• Winged Scapula

  Pfeiffer syndrome Say-Poznanski syndrome (short wide clavicles; winged scapulae; rib anomalies with prominent costovertebral junctions; wide ischial separation; angulated ulnae; polydactyly of the hands and feet; abnormal metacarpals and metatarsals). [fetalultrasound.com]

• Beaked Nose

  In addition to abnormal head shape, other features that help in diagnosis include bulging eyes, beaked nose, and flat face, among others. Treatment Surgery is done to separate fused sutures of the skull and to reshape the skull. [brighthub.com]

  nose Note that Kleeblattschaedel syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Kleeblattschaedel syndrome signs may refer to those signs only noticable by a doctor. [checkorphan.org]

  Facial malformations include high forehead, severe proptosis, or exophthalmoses, beaked nose, and downward displacement of ears. Multiple breathing and feeding issues may occur. [prince.org]

  Babies born with Pfeiffer syndrome may also have bulging eyes, high foreheads, beaked noses, and sunken mid-faces. Their fingers and toes might be webbed, or short and wide. [medicalnewstoday.com]

  The head is unable to grow normally due to premature closure of the coronal and basal sutures, which leads to bulging and wide-set eyes, beaked nose, maxillary retrusion, and an underdeveloped forehead, midface and upper jaw. [skullbaseinstitute.com]

• Communicating Hydrocephalus

  Of these 23 cases, 8 involved communicating hydrocephalus and 15 non-communicating hydrocephalus. [ncbi.nlm.nih.gov]

  Postmortem X-ray and 3D-CT scan confirmed the cloverleaf skull, narrow thorax, straight femur with rhizomelic shortening of the limbs and the presence of a communicating hydrocephalus. Enhanced PDF Standard PDF (470.8 KB) [onlinelibrary.wiley.com]

  Although communicating hydrocephalus with obstruction at the level of the basal cisterns is most common, aqueductal stenosis is fairly frequent. [pocketdentistry.com]

• Intracranial Hemorrhage

  No hydrocephaly or intracranial hemorrhage was seen. An upper gastrointestinal series showed normal gastric emptying and no structural abnormalities. No genetic testing was done for this patient. [consultant360.com]

Clinical Testing and Workup CT scanning and MRIs are used to help detect or characterize certain abnormalities that may be associated with the disorder (e.g., craniosynostosis, other skeletal abnormalities, etc.). [rarediseases.org]

Sleep apnea may be central, obstructive, or of mixed origin; proper workup and assessment are crucial to the establishment of the correct diagnosis and treatment. * Central apnea may result from intracranial hypertension. [pocketdentistry.com]

Total craniectomy proved to be a satisfactory treatment, one which was responsible for the reversal of hydrocephalus. Early detection and treatment of this rather rare malformation results in acceptable cosmetic and neurologic improvement. [ncbi.nlm.nih.gov]

Treatment Surgery is done to separate fused sutures of the skull and to reshape the skull. Both orthodontic and orthognathic surgical procedures are used. The surgical treatment has been found to be successful in patients. [brighthub.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

This paper reports the treatment and outcome of 7 children with the cloverleaf skull malformation treated at our institution between 1981 and 1993. [karger.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Prognosis - Kleeblattschaedel syndrome Not supplied. Treatment - Kleeblattschaedel syndrome Not supplied. Resources - Kleeblattschaedel syndrome Not supplied. [checkorphan.org]

Best prognosis. Frequently misinterpreted as an encephalocele or hygroma. Weiner CP, Williamson RA, Bonsib SM. Sonographic Diagnosis of Cloverleaf Skull and Thanatophoric Dysplasia in the Second Trimester. J Clin Ultrasound 1986, 14: 463-465. [fetalultrasound.com]

Cloverleaf skull is one of the most rarely seen anomalies and the prognosis is very poor in untreated cases. The main components involved in the deformity include hydrocephalus, trilobed head shape, shallow orbits and midfacial hypoplasia. [brighthub.com]

This anomaly has been reported to carry a dismal prognosis both in terms of neurological outcome as well as cosmetic appearance if treatment is delayed. [karger.com]

Traditionally, the prognosis for babies born with this disorder has been extremely poor, and these children are at high risk of either experiencing significant developmental delays or in some cases suffering from complications which ultimately lead to [3dprint.com]

An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects Orig. Art. Ser. XI(2): 137-189, 1975. Cohen, M. M., Jr. Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J. Craniofac. [omim.org]

Sadly, the focus of the treatment is symptomatic and not really on the underlying etiology. Even if the craniosynostosis is found in the prenatal phase, the treatment is still only symptomatic. [syndromespedia.com]

Etiology Mutations in the fibroblast growth factor receptor ( FGFR ) genes cause Pfeiffer syndrome: FGFR1 (on chromosome 8p11.2-p11) and FGFR2 (on chromosome 10q26) [ 4 ]. [ojrd.biomedcentral.com]

Apert syndrome and Pfeiffer syndrome are notable for some similarities but the two disorders are etiologically and genetically very distinct. [drugsdetails.com]

Lambdoid synostosis occurs with least frequency, and it is marked by occipital plagiocephaly. 44 Craniosynostosis is etiologically heterogeneous and pathogenetically variable. [pocketdentistry.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

“In babies, the cranial bones of the skull are supposed to be free from each other so they can continue to grow,” explains Jose Cordero, MD, department head of epidemiology and biostatistics at the University of Georgia and former director of the National [health.com]

Epidemiology Pfeiffer syndrome affects about 1 in 100,000 individuals. Clinical description A craniosynostosis in association with short, broad thumbs and big toes are the major diagnostic clues for Pfeiffer syndrome. [ojrd.biomedcentral.com]

Symptoms & Pathophysiology People suffering from Pfeiffer syndrome have skulls that are tower-shaped and have high foreheads. They also have short and broad thumbs and big toes. [syndromespedia.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Causes - Kleeblattschaedel syndrome * Crouzon craniofacial dysostosis * Acrocephalopolysyndactyly type 2 * Pfeiffer syndrome Prevention - Kleeblattschaedel syndrome Not supplied. [checkorphan.org]

It also is necessary to add artificial tear ointment to prevent damage from dry eyes resulting from proptosis. [consultant360.com]

“As a consequence, the brain becomes entrapped in an inextensible bone box, which prevents brain growth. [3dprint.com]