Genetic and clinical heterogeneity in the oral-facial-digital syndromes

Published on Jul 1, 1967in The Journal of Pediatrics3.7
· DOI :10.1016/S0022-3476(67)80236-1
David L. Rimoin4
Estimated H-index: 4
(JHUSOM: Johns Hopkins University School of Medicine),
Milton T. Edgerton6
Estimated H-index: 6
(JHUSOM: Johns Hopkins University School of Medicine),
Edgerton Mt6
Estimated H-index: 6
(JHUSOM: Johns Hopkins University School of Medicine)
The association of oral, facial, and digital malformations has become known as the oral-facial-digital (OFD) syndrome. This syndrome is currently considered to be inherited as an X-linked dominant trait, manifested only in female subjects and lethal in themale. This paper documents the presence of OFD malformations in one girl and her two male siblings. It is concluded that this symptom complex represents at least two distinct genetic entities: OFD I, inherited as an X-linked or sex-limited autosomal dominant; and OFD II (Mohr syndrome), probably inherited as an autosomal recessive.
📖 Papers frequently viewed together
4 Authors (Aubrey L. Ruess, ..., Klaus Patau)
93 Citations
132 Citations
5 Authors (Jacob Wahrman, ..., Nahum Ben-Hur)
81 Citations
#1Robert J. GorlinH-Index: 61
#2M. Michael CohenH-Index: 23
Last. Stefan L. LevinH-Index: 1
view all 3 authors...
Deformations and disruptions Teratogenic agents Chromosomal syndromes I: common and/or well known syndromes Chromosomal syndromes II: unusual variants METABOLIC DISORDERS the mucopolysaccharidoses the oligosaccharidoses and related disorders metabolic disorders and dysmorphic features Syndromes affecting bone I: the osteogenesis imperfectas Syndromes affecting bone II: chondrodysplasias and chondrodystrophies Syndromes affecting bone III: craniotubular bone disorders Syndromes affecting bone IV:...
2,218 Citations
#1Jacob WahrmanH-Index: 1
#2Moshe BerantH-Index: 24
Last. Nahum Ben-HurH-Index: 2
view all 5 authors...
A male infant is described showing all the major features of the oral-facial-digital syndrome (OFD): lobulated tongue with hypertrophic frena, fibrous bands extending into alveolar clefts, pseudocleft of upper lip, cleft palate, hypoplastic alae nasi, dystopia canthorum, various digital anomalies, and typical X-ray appearance of the skull. A partial agenesis of the corpus callosum with a lipoma was indicated by pneumoencephalography and angiography. The OFD syndrome is confined to females. In th...
81 Citations
#1Victor A. McKusickH-Index: 71
#2Kaplan DH-Index: 1
Last. Maumanee AeH-Index: 1
view all 7 authors...
195 CitationsSource
IN 1954 a syndrome characterized by cleft tongue and jaw, cleft lip and palate and digital malformation was described in 8 female patients by Papillon-Leage and Psaume.1 The terms "oral-facial-digi...
124 CitationsSource
#1Theodore KushnickH-Index: 1
#2Thomas P. MassaH-Index: 1
Last. Ruth BaukemaH-Index: 1
view all 3 authors...
A 9-month-old white male was found to have the typical multiple anomalies associated with the orofaciodigital syndrome. All previous, cases of this syndrome have been in females, and some have shown partial trisomy for the No. 1 choromosome. In this case the buccal cell sex chromatin test was consistent for a male. Chromosome analysis revealed a complement of 47 chromosomes with complete trisomy, probably involving the No. 1 choromosome.
49 CitationsSource
#1Herbert L. CooperH-Index: 9
#1Cooper HlH-Index: 1
Last. Hernits RH-Index: 1
view all 2 authors...
33 Citations
#1Robert J. Gorlin (UMN: University of Minnesota)H-Index: 61
#2Jean Psaume (UMN: University of Minnesota)H-Index: 1
Orodigitofacial dysostosis occurs in approximately 1 in 100 patients with cleft palate and has so far been seen only in females. The most common manifestations are hyperplasia of the frenula, a cleft tongue, and cleft palate. Less commonly there is absence of the lower lateral incisors, alopecia or dryness of the hair, anomalies of the facial or cranial bones, anomalies of the hands, or mental retardation.
132 CitationsSource
#1Aubrey L. RuessH-Index: 4
#2Samuel PruzanskyH-Index: 12
Last. Klaus PatauH-Index: 23
view all 4 authors...
93 Citations
IN 1954 Papillon-Leage and Psaume1 , 2 collected from the literature and from their own files a group of 8 patients having similar malformations. This symptom complex was described as affecting onl...
68 CitationsSource
#1Klaus Patau (UIC: University of Illinois at Chicago)H-Index: 23
#2Eeva Therman (UIC: University of Illinois at Chicago)H-Index: 30
Last. Aubrey L. Ruess (UIC: University of Illinois at Chicago)H-Index: 4
view all 5 authors...
One of the autosomes of the C group (6–12), C′, can sometimes be identified by a secondary constriction.
72 CitationsSource
Cited By114
#1Sara Faily (St Mary's Hospital)H-Index: 1
#2Rahat Perveen (St Mary's Hospital)H-Index: 22
Last. Jill Clayton-Smith (University of Manchester)H-Index: 68
view all 4 authors...
Objective:Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face, and digits. This condition is associated...
#1Jacqueline M. Tabler (University of Texas at Austin)H-Index: 7
#1Jacqueline M. Tabler (University of Texas at Austin)H-Index: 5
Last. John B. Wallingford (University of Texas at Austin)H-Index: 46
view all 14 authors...
Nearly all animals communicate using sound. In many cases these sounds are in the form of a voice, which in mammals is generated by a specialized organ in the throat called the larynx. Millions of people throughout the world have voice defects that make it difficult for them to communicate. Such defects are distinct from speech defects such as stuttering, and instead result from an inability to control the pitch or volume of the voice. This has a huge impact because our voice is so central to ou...
34 CitationsSource
#1Harold Chen (LSU Health Sciences Center New Orleans)H-Index: 14
In 1941, Mohr reported a family in which the propositus had oral (high-arched palate, lobate tongue with papilliform outgrowths), facial (broad nasal root, hypertelorism), and digital (syndactyly, brachydactyly, polydactyly of the hands and feet) findings. This report was the first description of an oral-facial-digital syndrome (OFD). Mohr concluded that the condition was due to sex-linked recessive sublethal gene. A later report of the same family identified a similarly affected individual born...
Background. The orofaciodigital syndromes (OFDS) are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cleft or hypoplastic maxillary and mandibular alveolar ridge, oral frenula, lingual hamartoma, and absent...
#1J. E. McKinnie (UT: University of Tennessee)H-Index: 1
#2A. N. Abdullah (UT: University of Tennessee)H-Index: 1
Last. Jaya Ramanathan (UT: University of Tennessee)H-Index: 6
view all 3 authors...
Abstract Oral-Facial-Digital syndrome or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. In this case report, we describe the anesthetic management of a parturient with Oral-Facial-Digital syndrome type II and repaired tetralogy of Fallot with left ventricular dysfunction.
2 CitationsSource
#1Kanika Singh Dhull (KIIT: KIIT University)H-Index: 4
#2Sonu AcharyaH-Index: 4
Last. Swagatika PandaH-Index: 6
view all 5 authors...
Oro-Facial Digital Syndrome (OFDS) is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I) which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.
1 CitationsSource
The Oralfacialdigital Syndromes (OFD) results from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. In view of the different modes of inheritance and the different prognoses of the most common OFDs; OFD I, and II, it is important to establish a correct diagnosis in these patients. A case of type II OFD syndrome is being reported and the distinguishing clinico-radiological features with type I are compared. This case reports also reviews...
1 CitationsSource