Duplication of the pituitary gland

Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).



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Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.9%)		 10670895
 Epignathus teratoma: report of three cases with a review of the literature.
Vandenhaute B, Leteurtre E, Lecomte-Houcke M, Pellerin P, Nuyts JP, Cuisset JM, Soto-Ares G.
Cleft Palate Craniofac J. 2000;37(1):83-91.
Pierre-Robin sequence Meningoencephalocele Cleft lip
Brain Neoplasms Differential Diagnosis Fatal Outcome Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Mouth Neoplasms Neoplasms, Multiple Primary Pierre Robin Syndrome Pituitary Gland Teratoma Tongue X-Ray Computed Tomography
2
(39.0%)		 22439114
(3307243)
 Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature.
Manjila S, Miller EA, Vadera S, Goel RK, Khan FR, Crowe C, Geertman RT.
Surg Neurol Int. 2012;3:23.
Encephalocele
3
(27.8%)		 28027175
 Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue.
Noguchi T, Sugiyama T, Sasaguri KI, Ono S, Maeda K, Nishino H, Jinbu Y, Mori Y.
J Craniofac Surg. 2017;28(2):e141-e144.
Lobulated tongue
SMG1
Child, Preschool Cleft Palate Hard Palate Homo sapiens Infant Infant, Newborn Male Mandible Palatal Neoplasms Palate, Soft Pituitary Gland Syndrome Teratoma Tongue
4
(26.3%)		 11070436
 Duplication of the hypophysis.
Burke M, Zinkovsky S, Abrantes MA, Riley W.
Pediatr Neurosurg. 2000;33(2):95-9.
Hypertelorism Anosmia
Cerebral Angiography Child Cleft Palate Females Homo sapiens Magnetic Resonance Imaging Olfaction Disorders Pituitary Gland
5
(4.0%)		 26564114
 DPG-plus syndrome: new report of a rare entity.
Azurara L, Marcal M, Vieira F, Tuna ML.
BMJ Case Rep. 2015;2015:.
Hypothalamic hamartoma
Cleft Palate Females Homo sapiens Infant, Newborn Nasopharyngeal Neoplasms Pituitary Gland Syndrome Tongue X-Ray Computed Tomography
5
(4.0%)		 23851840
 Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland.
Maeda Y, Suenaga H, Sugiyama M, Saijo H, Hoshi K, Mori Y, Takato T.
J Craniofac Surg. 2013;24(4):1486-91.
Teratoma
Cervical Vertebrae Cleft Palate Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Mandible Oropharyngeal Neoplasms Pituitary Gland Repeat Surgery Teratoma Tongue X-Ray Computed Tomography
5
(4.0%)		 15810008
 Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors.
Slavotinek A, Parisi M, Heike C, Hing A, Huang E.
Am J Med Genet A. 2005;135(1):13-20.
Hypertelorism
Child, Preschool Cleft Palate Craniofacial Abnormalities Fatal Outcome Females Homo sapiens Infant Male Oropharyngeal Neoplasms Pituitary Gland
5
(4.0%)		 12136328
 Extreme fenestration of the basilar artery associated with cleft palate, nasopharyngeal mature teratoma, and hypophyseal duplication.
Uchino A, Sawada A, Takase Y, Fujita I, Kudo S.
Eur Radiol. 2002;12(8):2087-90.
Teratoma
Cleft Palate Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Nasopharyngeal Neoplasms Pituitary Gland Teratoma
5
(4.0%)		 8427075
 Duplication of the pituitary gland as shown by MR.
Ryals BD, Brown DC, Levin SW.
AJNR Am J Neuroradiol. 1993;14(1):137-9.
Hypertelorism
Child, Preschool Contrast Media Gadolinium DTPA Homo sapiens Magnetic Resonance Imaging Male Organometallic Compounds Pituitary Gland
5
(4.0%)		 7708185
 Review of the embryologic development of the pituitary gland and report of a case of hypophyseal duplication detected by MRI.
Kollias SS, Ball WS, Prenger EC.
Neuroradiology. 1995;37(1):3-12.
Small pituitary gland
Abnormalities, Drug-Induced Cleft Palate Delayed Puberty Females Gestational Age Homo sapiens Magnetic Resonance Imaging Menstruation-Inducing Agents Pituitary Function Tests Pituitary Gland
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000157 Abnormality of the tongue Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000244 Brachyturricephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000742 Self-mutilation Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0002061 Lower limb spasticity Very frequent (99-80%)
HP:0002084 Encephalocele Very frequent (99-80%)
HP:0002418 Abnormality of midbrain morphology Very frequent (99-80%)
HP:0002679 Abnormality of the sella turcica Very frequent (99-80%)
HP:0002943 Thoracic scoliosis Very frequent (99-80%)
HP:0003310 Abnormality of the odontoid process Very frequent (99-80%)
HP:0003319 Abnormality of the cervical spine Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004325 Decreased body weight Very frequent (99-80%)
HP:0007036 Hypoplasia of olfactory tract Very frequent (99-80%)
HP:0007642 Congenital stationary night blindness Very frequent (99-80%)
HP:0009792 Teratoma Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011069 Increased number of teeth Very frequent (99-80%)
HP:0011729 Abnormality of joint mobility Very frequent (99-80%)
HP:0012286 Abnormal hypothalamus morphology Very frequent (99-80%)
HP:0012503 Abnormality of the pituitary gland Very frequent (99-80%)
HP:0040199 obsolete Flat midface Very frequent (99-80%)
HP:0100872 Abnormality of the plantar skin of foot Very frequent (99-80%)
HP:3000005 Abnormality of masseter muscle Very frequent (99-80%)
HP:0002580 Volvulus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000180 Lobulated tongue 1
HP:0000201 Pierre-Robin sequence 1
HP:0000316 Hypertelorism 1
HP:0002079 Hypoplasia of the corpus callosum 1
HP:0002444 Hypothalamic hamartoma 1
HP:0009792 Teratoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID