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]

[…] anomaly of sporadic presentation. [pubmed.ncbi.nlm.nih.gov]

• Pathologist

  All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]

  Others involved with the treatment of these children are audiologists and speech pathologists. Later, they may require a psychiatrist. Feeding difficulties may require the help of a nutritionist. [emedicine.medscape.com]

• Inflammation

  Due to such abnormalities, affected individuals are unusually susceptible to developing inflammation of the front, transparent regions of the eyes (i.e., exposure keratitis) as well as the membranes that line the inner surfaces of the eyelids and cover [rarediseases.org]

• Vomiting

  Other, much less common signs may include: A full or bulging fontanelle (soft spot located on the top of the head) Sleepiness (or less alert than usual) Very noticeable scalp veins Increased irritability High-pitched cry Poor feeding Projectile vomiting [hopkinsmedicine.org]

  I ended up vomiting every single night from over-drainage, until we requested that MY neurosurgeon put in another shunt. That was done on February 10, 2006. He put in an adjustable valve and it ended up lasting about 6 years. [globalgenes.org]

  Today, no narcotics are given to children after surgery; instead, we keep children comfortable using intravenous acetaminophen and ibuprofen ( Publication #58 ), which we have found also reduces nausea and vomiting after surgery. [thecraniofacialcenter.com]

• Nausea

  They gave me Zofran, an IV anti-nausea med, and I was able to sleep sitting up, and only sitting up. Later on that day, I was in extreme pain and even asked for Oxycodone. I had not had narcotic pain meds in DAYS! The Oxy did not help me much. [globalgenes.org]

  Today, no narcotics are given to children after surgery; instead, we keep children comfortable using intravenous acetaminophen and ibuprofen ( Publication #58 ), which we have found also reduces nausea and vomiting after surgery. [thecraniofacialcenter.com]

• Hypertension

  Five patients, whose ages ranged from 2 months to 5 years, achieved satisfactory results both as regards relief from intracranial hypertension and preservation of visual acuity, and from the aesthetic viewpoint. [link.springer.com]

  Progressing optic nerve atrophy leads to vision impairment because of the intracranial hypertension. Impairment of hearing indicates disorders of the middle ear. [kemiamusa.blogspot.com]

  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]

  The findings are dwarfism, webbed neck, low hairline, epicanthal folds, mandibular deformity, webbed elbows and knees, coarctation of the aorta, hypertension, lymphedema of the hands and feet, and mental retardation. [emedicine.medscape.com]

• Heart Disease

  Moss' heart disease in infants, children, and adolescents, 4th ed. Baltimore: Williams & Wilkins, 1989:530. ‏ [books.google.com]

  Type 3: Saethre-Chotzen syndrome : Characterized by growth delays, short stature, and cranial/ocular/hand defects Type 4: Goodman syndrome : Characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart [ajnr.org]

• Torticollis

  May be associated with torticollis. [paeds.co.uk]

  The presence of torticollis, prematurity, and gross motor delay can also predispose an infant to positional plagiocephaly [16,44,48,49]. Trigonocephaly Trigonocephaly results from a premature fusion of the metopic suture. [bjbms.org]

  Associated features are webbing of the neck, scoliosis, torticollis, and, occasionally, Sprengel deformity, which is displacement of one or both scapulae. In some cases, patients have mental retardation. [emedicine.medscape.com]

• Fracture

  The long bones are dysplastic as well with thinned diaphyses (sometimes fractured in utero), growth plate disorganization, excessive remodeling, and signs of arrested growth. [disorders.eyes.arizona.edu]

  The lateral skull segments are then out-fractured. [emedicine.medscape.com]

• Hypertelorism

  Amniotic band syndrome Antley-Bixler syndrome Apert syndrome Beare-Stevenson syndrome (cutis gyratum; acanthosis nigrans; hypertelorism; cleft palate; bifid scrotum; carniosynostosis with / without cloverleaf skull). [fetalultrasound.com]

  Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and low-set ears Description from OMIM: 607161 Human phenotypes related to Multiple Congenital Anomalies Syndrome with Cloverleaf Skull: 60 33 (show all 27) # Description [malacards.org]

  Congenital anomalies of the face affect 1 in ____ births List 5 examples of congenital facial anomalies Cleft lip Hypotelorism Hypertelorism Micrognathia Cleft palate What are the 2 most common facial anomalies that are associated with chromosomal abnormalities [quizlet.com]

  Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion. Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion. [emedicine.medscape.com]

  Distinctive facial features may include a high full forehead; underdeveloped mid-facial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla) with a prominent lower jaw; and dental crowding [thinkgenetic.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]

  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]

  […] root * Underdeveloped midface * Hydrocephalus * Brain malformations * Cerebellum malformations * Motor retardation * Webbed toes * Webbed fingers * Restricted joint mobility * Vertebral abnormalities * Mental retardation * High forehead * Beaked nose [checkorphan.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]

• Confusion

  Pfeiffer syndrome type II may be confused with Antley-Bixler syndrome. [em-consulte.com]

  FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome Jiayan Fan, Yinwei Li, Renbing Jia & Xianqun Fan BMC Medical Genetics (2018) RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley–Bixler syndrome should not be confused [nature.com]

  Sometimes Pfeiffer syndrome has been confused with Saethre-Chotzen and Jackson-Weiss syndromes, since broad toes may occur in both. Prenatal diagnosis The condition is usually detected in the newborn period or later, and not prenatally. [ojrd.biomedcentral.com]

  The condition is rare, occurring in 1 in 10,000 live births. [51] This situation should not be confused with deformational unilateral skull deformity. [emedicine.medscape.com]

• Neurologic Manifestation

  Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy Movement Disorders and Hashimotos Encephalopathy in Children E-2150 120 Opsoclonus Myoclonus Syndrome E-2158 121 Neurologic Manifestations [books.google.com]

• Irritability

  Other, much less common signs may include: A full or bulging fontanelle (soft spot located on the top of the head) Sleepiness (or less alert than usual) Very noticeable scalp veins Increased irritability High-pitched cry Poor feeding Projectile vomiting [hopkinsmedicine.org]

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

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]

Athazagoraphobia – Causes, test, symptoms and treatments Pentheraphobia – definition, pronunciation, causes, symptoms, diagnosis, treatments [drugsdetails.com]

Treatment begins at birth once an accurate diagnosis is made. No treatments can reverse Pfeiffer syndrome, but treatment can manage specific symptoms of this condition. [medicalnewstoday.com]

[…] of the poor prognosis, particularly in the case of a mutation in the FGFR2 gene [ 9 ]. [em-consulte.com]

Prognosis The prognosis of Pfeiffer's syndrome depends on the severity of the associated anomalies. [skullbaseinstitute.com]

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]

The anomaly has been reported to carry dismal prognosis both in terms of neurological outcome as well as cosmetic appearance if treatment is delayed. [prince.org]

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]

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]

Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. Cohen MM Jr. Cohen MM Jr. J Craniofac Surg. 2009 Mar;20 Suppl 1:652-6. doi: 10.1097/SCS.0b013e318193d4f7. J Craniofac Surg. 2009. [pubmed.ncbi.nlm.nih.gov]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Similar articles [Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]. [pubmed.ncbi.nlm.nih.gov]

Epidemiology and genetics of craniosynostosis. Am J Med Genet. 2000;90(1):82-4. O'Hara J, Ruggiero F, Wilson L, James G, Glass G, Jeelani O, et al. Syndromic Craniosynostosis: Complexities of Clinical Care. Mol Syndromol. 2019;10(1-2):83-97. [revneuro.sld.cu]

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]

Signaling mechanisms implicated in cranial sutures pathophysiology: Craniosynostosis. BBA Clin 2016;6:165-76. https://doi.org/10.1016/j.bbacli.2016.04.006. Ursitti F, Fadda T, Papetti L, Pagnoni M, Nicita F, Iannetti G, et al. [bjbms.org]

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]

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

This affects the shape of their face and head and will prevent the further growth of the skull. It can also affect the bones in the feet and hands. Around the world it affects approximately one in one hundred thousand births. [healthool.com]

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