OPD Syndrome
Family Resource Network
Articles
The literature list provided below is for reference and educational
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Alembik Y, Stoll C, Messer J.: On the phenotypic overlap between "severe" oto-palato-
digital type II syndrome and Larsen syndrome. Variable manifestation of a single
autosomal dominant gene.
Genet Couns. 1977;8(2):133-7.
PMID: 9219012 [PubMed indexed for MEDLINE]
ABSTRACT

Albero R, Cerdan A, Carretero F, Tallada M, Pertusa C, Hidalgo L. : [Urethral valves and
nephrogenic diabetes insipidus associated with oto-palatal digital syndrome]
Actas
Urol Esp. 1978 Nov-Dec;2(6):309-10. Spanish. No abstract available.
PMID: 727008 [PubMed - indexed for MEDLINE]

P. BATRA, F. S. RYAN, H. WITHEROW & M. L. CALVERT
Maxillofacial and Dental Department, Great Ormond Street Hospital for Children NHS Trust,
London WC1N 3JH, UK International
Distraction in a case of otopalatodigital syndrome
type II
 Journal of Paediatric Dentistry  Volume 16 Issue 4, Pages 286 - 291  ABSTRACT

Biancalana, V.; Le Marec, B.; Odent, S.; van den Hurk, J. A. M. J.; Hanauer, A. : Oto-palato-
digital syndrome type I: further evidence for assignment of the locus to Xq28.
Hum.
Genet. 88: 228-230, 1991.
PubMed ID : 1757098   
 ABSTRACT

Beluffi G, Pazzaglia UE, Fiori P, Pricca P, Poznanski AK.: [Oto-palato-digital syndrome.
Clinico-radiological study]  
Radiol Med (Torino). 1987 Sep;74(3):176-84. Italian.
PMID: 3659425 [PubMed - indexed for MEDLINE]   
ABSTRACT

Blanchet P, Lefort G, Eglin MC, Rieu D, Sarda P.: Multiple congenital anomalies associated
with an oto-palato-digital syndrome type II.
Genet Couns 1993;4(4):289-94
PMID: 8110417 [PubMed - indexed for MEDLINE]   
ABSTRACT

Brewster, T. G.; Lachman, R. S.; Kushner, D. C.; Holmes, L. B.; Isler, R. J.; Rimoin, D. L. :
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. Am. J. Med. Genet.
20: 249-254, 1985.
PubMed ID : 3976718   
ABSTRACT

Buran DJ, Duvall AJ 3rd.: The oto-palato-digital (OPD) syndrome. Arch Otolaryngol. 1967
Apr;85(4):394-9. No abstract available.
PMID: 6021748 [PubMed - indexed for MEDLINE
]

Clark JR, Smith LJ, Kendall BE, Tasker RC, Wilkinson KA.: Unexpected brainstem
compression following routine surgery in a child with oto-palato-digital syndrome.
Anaesthesia 1995 Jul;50(7):641-3
PMID: 7653767 [PubMed - indexed for MEDLINE]   
ABSTRACT

Corona-Rivera JR, Corona-Rivera E, Corona-Rivera A, et al. Infant with manifestations of
oto-palato-digital syndrome type II and of Melnick-Needles syndrome
.  Am J Med Genet
(United States), Jul 2 1999, 85(1) p79-81 No abstract available.
PMID: 10377016 [PubMed indexed for MEDLINE]

Dudding, B. A.; Gorlin, R. J.; Langer, L. O., Jr. :
The oto-palato-digital syndrome: a new
symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies,
and a generalized bone dysplasia
. Am. J. Dis. Child. 113: 214-221, 1967.
PubMed ID : 6019437

Eccles DM, Moore IE, Cook S, Griffin DR, Chitty L, Hall CM and Temple IK.
Prenatal
ultrasound findings in a fetus with otopalatodigital syndrome Type II
. Clin Dysmorphol,
Apr 1994; 3(2): 175-9.   
ABSTRACT

Farhud DD, Walizadeh GR, Farhud I.: Oto-palato-digital syndrome in an Iranian infant.
Monatsschr Kinderheilkd. 1989 Oct;137(10):681-3.
PMID: 2555708 [PubMed - indexed for MEDLINE]   
ABSTRACT

Farriaux, JP, Dubois O, Maroteaux P, Fontaine G.: [A case of dwarfism with oto-palato-
digital involvement (author's translation)
] J Radiol Electrol Med Nucl. 1974 Feb;55(2):137-
42. French. No abstract.
PMID: 4408413 [PubMed - indexed for MEDLINE]

Fitch, N.; Jequier, S.; Gorlin, R. :
The oto-palato-digital syndrome, proposed type II. Am. J.
Med. Genet. 15: 655-664, 1983.
PubMed ID : 6614053  
ABSTRACT

Fryns JP, Michielsen P, Vinken L, and Van Den Berghe H. The otopalatodigital syndrome.
Acta Paediatr Belg, Jul 1978: 31(3): 159-63
.

Gall, J. C., Jr.; Stern, A. M.; Poznanski, A. K.; Garn, S. M.; Weinstein, E. D.; Hayward, J. R. : Oto-
palato-digital syndrome: comparison of clinical and radiographic manifestations in
males and females
. Am. J. Hum. Genet. 24: 24-36, 1972.
PubMed ID : 5012690

Gendall PW, Kozlowski K.:
Oto-palato-digital syndrome type II.  Report of two related
cases
.  Pediatr Radiol. 1992;22(4):267-9.
PMID: 1523048 [PubMed - indexed for MEDLINE]
ABSTRACT

Gorlin RJ, Poznanski AK, Hendon I.: The oto-palato-digital (OPD) syndrome in females.  
Oral Surg Oral Med Oral Pathol. 1973 Feb;35(2):218-24. No abstract available.
PMID: 4513067 [PubMed - indexed for MEDLINE]

Gorlin RJ.:  
Oto-palato-digital syndrome.  Am J Dis Child. 1967 Aug;114(2):215. No abstract
available.
PMID: 4951552 [PubMed - indexed for MEDLINE]

Guarducci S,  Cecconi A, Lapi E, Ricotti G, Ricci U, Lapini M, Ombroni L, Andreucci E, Pelagatti
S, Lazzerini V, Sani I, Brusaferri A, Giovannucci Uzielli ML.
Otopalatodigital Type II in a
female: clinical and laboratory studies.
University of Florence, Department of Paediatrics,
Azienda Meyer, Genetics and Molecular Medicine Unit,Florence, Italy.

Guizar-Vazquez JJ, Sanchez-Aguilar G, Hermandez y Alva LE, Salamanca Gomez F.:
[Oto-
palato-digital syndrome and craniopharyngioma. Apropos of a case
] Bol Med Hosp Infant
Mex. 1984 Sep;41(9):489-93. Spanish. No abstract available.
PMID: 6497971 [PubMed - indexed for MEDLINE]

Hoar, D. I.; Field, L. L.; Beards, F.; Hoganson, G.; Rollnick, B.; Hoo, J. J. :
Tentative
assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28)
. Am. J. Med.
Genet. 42: 170-172, 1992.
PubMed ID : 1733165  
ABSTRACT

Holder, S. E.; Winter, R. M. : Otopalatodigital syndrome type II. J. Med. Genet. 30: 310-313,
1993.
PubMed ID : 8487277

Hoo, J. J.; Hoar, D. I.; Field, L. L.; Beards, F.; Hoganson, G.; Rollnick, B. :
Tentative
assignment of oto-palato-digital syndrome gene to distal X
q (Xq26-q28). (Series) Miami
Short Reports. Advances in Gene Technology: The Molecular Biology of Human Genetic
Disease. New York: IRL Press (pub.) 1 1991. Pp. 11 only.

Horn D, Nitz I, Bollmann R.:
Oto-palato-digital syndrome with features of type I and II in
brothers
. Genet Couns. 1995;6(3):233-40.
PMID: 8588852 [PubMed indexed for MEDLINE]  
ABSTRACT

Hung PC, Wang HS, Lui TN: Coexistence of oto-palato-digital syndrome type II and
Arnold-Chiari I malformation in an infant.
Brain Dev (Netherlands), Oct 1999, 21(7) p488-
90   
ABSTRACT

Kamada K, Nagata Y, Yoneyama H, Numata K, Hashimoto K, Okada E, Tateno M, Araki M.: Oto-
palato-digital syndrome observed in a girl and her younger brother.
J Nihon Univ Sch
Dent. 1983 Mar;25(1):11-26. No abstract available.
PMID: 6575134 [PubMed - indexed for MEDLINE]

Kaplan, J, Maroteaux P.:
Oto-palato-digital type II syndrome.  Ann Genet. 1984;27(2):79-82.
French.
PMID: 6331793 [PubMed - indexed for MEDLINE]   
ABSTRACT

Kosho T, Uemura T, Tanimura M, Ohashi H, Muroya K and Ogata T. Refined mapping of the
gene for otopalatodigital syndrome Type I
.  J. Med. Genet., Feb 2002; 39: 7.

T. Kondoh1 , N. Okamoto2, N. Norimatsu1, M. Uetani3, G. Nishimura4 and H. Moriuchi1  
A
Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–
genotype correlation.  
Journal of Human Genetics  Volume 52, Number 4 / April, 2007  
ABSTRACT

Kozlowski, K.; Turner, G.; Scougall, J.; Harrington, J. : Oto-palato-digital syndrome with
severe x-ray changes in two half brothers.
Pediat. Radiol. 6: 97-102, 1977.
PubMed ID : 896356  
ABSTRACT

Langer LO Jr.: The roentgenographic features of the oto-palato-digital (OPD) syndrome.
Am J Roentgenol Radium Ther Nucl Med. 1967 May;100(1):63-70. No abstract available.
PMID: 6023901 [PubMed - indexed for MEDLINE]

Le Marec, B.; Odent, S.; Bracq, E.; Bulard, M. B.; Bourdiniere, J.; Babut, J. M. :
Syndrome oto-
palato-digital de type
I atteignant cinq generations. Relations avec la forme de type II. Ann.
Genet. 31: 155-161, 1988.
PubMed ID : 3265608

Nager GT and Char F.
The otopalatodigital (OPD) syndrome: (conductive deafness, cleft
palate and anomaly of digits)
. Birth Defects Orig Artic Ser, Jun 1971; 7(7): 273-4.

Narahara K:
[Oto-palato-digital syndrome, type II]
Ryoikibetsu Shokogun Shirizu (Japan), 2001, (34 Pt 2) p446-8

Narahara K:
[Oto-palato-digital syndrome, type I]
Ryoikibetsu Shokogun Shirizu (Japan), 2001, (34 Pt 2) p444-5

Nishimura, G.; Horiuchi, T.; Kim, O. H.; Sasamoto, Y. :
Atypical skeletal changes in
otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital
syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal
male phenotype of Melnick-Needles syndrome
. Am. J. Med. Genet. 73: 132-138, 1997.
PubMed ID : 9409862

Ogata, T.; Matsuo, N.; Nishimura, G.; Hajikano, H. :
Oto-palato-digital syndrome, type II:
evidence for defective intramembranous ossification.
Am. J. Med. Genet. 36: 226-231,
1990.
PubMed ID : 2114799   
ABSTRACT

Pazzaglia, U. E.; Beluffi, G. : Oto-palato-digital syndrome in four generations of a large
famil
y. Clin. Genet. 30: 338-344, 1986.
PubMed ID : 3791682  
ABSTRACT

Plenier V, Delaire J, David A, and Cohen JY. Otopalatodigital syndrome. Apropos of 3
female cases
. Rev Stomatol Chir Maxillofac, Jan 1983: 84(6): 322-9.

Podoshin L, Heymans HS, Fradis M.:
The oto-palato-digital syndrome. J Laryngol Otol. 1976
Apr; 90(4):407-11.
PMID: 1270914 [PubMed indexed for MEDLINE]  
ABSTRACT

Poznanski, A. K.; Macpherson, R. I.; Dijkman, D. J.; Gorlin, R. J.; Gall, J. C., Jr.; Stern, A. M.;
Garn, S. M.; Nagy, J. M. :
Otopalatodigital syndrome: radiologic findings in the hand and
foot
. Birth Defects Orig. Art. Ser. 10(5): 125-139, 1974.

Preis, S.; Kemperdick, H.; Majewski, F. :
Oto-palato-digital syndrome type II in two
unrelated boys
. Clin. Genet. 45: 154-161, 1994.
PubMed ID : 8026107   
ABSTRACT

Robertson S, Gunn T, Allen B, Chapman C, Becroft D.: Are Melnick-Needles syndrome and
oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred
.  
Am J Med Genet. 1997 Aug 22;71(3):341-7.
PMID 9268106 [PubMed - indexed for MEDLINE]   
ABSTRACT

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ,
Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri
M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.:
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause
diverse malformations in humans.  
Nat Genet. 2003 Apr;33(4):487-91. Epub 2003 Mar 03.
PMID: 12612583 [PubMed - indexed for MEDLINE]  
ABSTRACT

Robertson, S. P.; Walsh, S.; Oldridge, M.; Gunn, T.; Becroft, D.; Wilkie, A. O. M. : Linkage of
otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with
OPD1
. Am. J. Hum. Genet. 69: 223-227, 2001.
PubMed ID : 11398100

Robertson, S.
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and
2, frontometaphyseal dysplasia and Melnick-Needles syndrome.  
Practical Genetics
European Journal of Human Genetics (2007) 15, 3–9. doi:10.1038/sj.ejhg.5201654; published
online 23 August 2006  
ABSTRACT


Rosenbaum, S.; Carakushazky, G.; Gleiser, S. : The oto-palatal-digital syndrome. Rev.
Brasil. Genet. 9: 341-347, 1986.

Salinas CF, Jorgenson RJ, and Lorenzo RL.
Variable expression in otopalatodigital
syndrome: cleft palate in female
. Birth Defects Orig Artic Ser, Jan 1979: 15(5B): 329-45.

Savarirayan R, Cormier-Daire V, Unger S, et al
.
Oto-palato-digital syndrome, type II: report of three cases with further delineation of
the chondro-osseous morphology.
Am J Med Genet (United States), Nov 27 2000, 95(3)
p193-200  
ABSTRACT

Schaefer GB, Kolodziej P, Olney AH: Oto-palatal-digital syndromes.
Ear Nose Throat J (United States), Aug 1998, 77(8) p586-7

Singh SD, Diwedi MS, Irani M.:
Oto-palato-digital syndrome. Indian J Pediatr. 1970 Mar;37
(266):112-4. No abstract available.
PMID: 5505607 [PubMed-indexed for MEDLINE]

Stern HJ, Graham JM Jr, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ,
Bocian M, Rimoin DL.:
Atelosteogenesis type III: a distinct skeletal dysplasia with
features overlapping atelosteogenesis and oto-palato-digital syndrome type II.
Am J
Med Genet. 1990 Jun;36(2):183-95.
PMID: 2368807 [PubMed - indexed for MEDLINE]   
ABSTRACT

Stoll C, Alembik Y.: Oto-palato-digital syndrome type II. Genet Couns. 1994;5(1):61-6.
PMID 8031537 [PubMed indexed for MEDLINE]  
ABSTRACT

Stratton, R. F.; Bluestone, D. L. : Oto-palatal-digital syndrome type II with X-linked
cerebellar hypoplasia/hydrocephalus
. Am. J. Med. Genet. 41: 169-172, 1991.   PubMed ID :
1785627  
ABSTRACT

Superti-Furga A, Gimelli F (1987) Fronto-metaphyseal dysplasia and the oto-palato-digital
syndrome
. Dysmorph Clin Genet 1:25

A Superti-Furga.
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters
and lumpers, and paternity of ideas
. Am J. Med Genet, Nov 2000; 95(1):86

Suzumura H, Kano K, Nishimura G:
Hypoplasia of the transverse sinus in oto-palato-
digital syndrome type I
. Am J Med Genet (United States), Oct 12 1998, 79(5) p401-2

Takato T, Fukuda O, and Oda M.
Otopalatodigital syndrome.  Ann Plast Surg, April 1, 1985;
14(4): 371-4.

Turner G, Gorlin RJ.:
Inheritance of the oto-palato-digital syndrome. Am J Dis Child. 1970
Apr;119(4):377. No abstract available.
PMID:5434601 [PubMed indexed for MEDLINE]

Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E (2000)

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity
encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2,
and frontometaphyseal dysplasia.
Am J Med Genet 90:407422 | PubMed

Young, K.; Barth, C. K.; Moore, C.; Weaver, D. D. :
Otopalatodigital syndrome type II associated with omphalocele: report of three cases.
Am. J. Med. Genet. 45: 481-487, 1993.
PubMed ID : 8465856   
ABSTRACT

Zaytoun GM, Harboyan G, Kabalan W: The oto-palato-digital syndrome: Variable clinical
expressions
[In Process Citation] Otolaryngol Head Neck Surg (United States), Feb 2002, 126
(2) p129-40   
ABSTRACT