Review Article

Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family

Table 7


Authors (date)Cases (n)Sex m fMean ageSupernumerary teethEruption failureDelayed eruption of permanent teethHypoplastic maxillaMaxillary contraction and related therapyClavicular signMiscellaneous comments

Madeira et al. (2015) [41]1121YesYesYesYesYesYesLe Fort I osteotomy: 5 mm maxillary advancement; BSSO mandible advancement of 2.4 mm with counterclockwise occlusion
Zhang et al. (2015) [42]32 114YesYesYesYesYesYes
Guo et al. (2015) [16]1152YesYesn.a.Yesn.a.YesSporadic, depressed frontal area, hypertelorism
Paul et al. (2015) [43]2215,5YesYesYesYesYes, class III malocclusionYesHypertelorism and frontal bossing
Lu et al. (2015) [44]1120YesYesYesYesYes, bilateral anterior and posterior crossbite, class III malocclusion, high-arched palateYesFrontal bossing, ahypoplastic midface with hypertelorism, a depressed nasal bridge, fusion of the primary teeth
Rocha et al. (2014) [45]1122YesYesYesYesYes (crisscross elastics)Yes
Chen et al. (2014) [46]1129YesYesYesYesYesYesBrachydactyly, joint laxity, incomplete gasi cation of the frontal sinus
Hardy et al. (2014) [47]1131Yesn.a.n.a.n.a.n.a.YesAcute, traumatic, posterior dislocation of both glenohumeral joints in a case of bilateral clavicular agenesis
Gömleksiz et al. (2014) [48]1124YesYesYesYessubmucosal cleft palate causing rhinolaliaYesHearing loss; dyspnea, fatigue, hypertelorism, frontal bossing
Bedeschi et al. (2014) [49]1113n.a.YesYesYesYesYesHypertelorism, bilateral flat foot
Park et al. (2013) [14]21 113YesYesYesYes (class III; Le Fort I both of them)Yes (TPA), 9 mm anterior crossbite hyrax expandern.a.Case 1 (12-year-old boy): broad forehead, hypertelorism. Case 2 (14-year-old girl): bilateral TMJ clicking, Agenesia 37
Back and Pollock (2013) [50]1117n.a.YesYesYesYes, skeletal class IIIYesFlattening of the frontal bones, hypertelorism
Vij et al. (2013) [51]1115YesYesYesYesYesYesOpen skull sutures, obliterated maxillary sinus
Callea et al. (2012) [52]1111No, absence of 3.2YesYesn.a.Yes, REPYesMild bilateral sensorineural hearing loss, mandibular hypoplaia, brachycephaly, frontal bossing, large fontanelles
Nel et al. (2012) [53]1110,5YesYesYesNo, class IIn.a.Yes
Sberna et al. (2012) [54]21 113,5YesYesYesYesYesYesAnomalies of roots, altered morphology of lateral incisors, ectopic canines
Mortellaro et al. (2012) [55]2224YesYesYesYesYesYesCase 1: a 15-year-old boy; case 2: a 12-year-old girl
Fang et al. (2011) [56]1118YesYesYesYesYesYesPatent fontanelles, wide cranial sutures, protruding mandible
Petropoulos et al. (2011) [57]1145YesYesYesYesYesYes
Berg et al. (2011) [15]21 113YesYesYesYesYes, expansion and SS magnetic keepers laser-welded onto the transpalatal arch (TPA)YesFemale patients required also Le Fort I surgery, genioplasty, and insertion of 2 implants in the premolar areas bilaterally
Mehta et al. (2011) [58]2212.5YesYesYesYesYesYesHypertelorism, depressed nasal bridge, frontal prominence
Trigui et al. (2011) [59]21 13n.a.n.a.n.a.YesYesYesHypertelorism, bilateral flat foot coxa vara, frontal bossing, wormian bones
Dalessandri et al. (2011) [60]1115YesYesYesYesYes, bilateral crossbiteYes
Karagüzel et al. (2010) [61]113.5Yesn.a.n.a.YesYesYesMandibular retrognathism, brachiocephalic head
Kamatham et al. (2011) [62]1111YesYesYesYesn.a.No
Kamamoto et al. (2010) [63]1128YesYesYesYesYesYes
Xuan et al. (2010) [64]21 125.5YesYesYesYesYesYesParents not affected by CCD, novel nonsense mutation (p.E366X) was identified
Mohan et al. (2010) [65]119YesYesYesYesYesYesExertional dyspnea, repeated ear infections and sinusitis, prominent forehead, with hypertelorism, a depressed nasal bridge
Wang et al. (2010) [66]32 111.83YesYesYesn.a.n.a.YesFather, son, and daughter
El-Gharbawy et al. (2010) [67]116YesYesYesYesYesYesKyphoscoliosis, frenuloplasty for ankyloglossia
Dhanpal et al. (2009) [68]1115YesYesYesYesYesYesTwo fused roots of the maxillary primary canines
Ioscovich et al. (2009) [69]1123n.a.YesYesYesYesYesHypertelorism, frontal bossing, open fontanels
Chelvan et al. (2009) [70]1110YesYesYesYes, class III incisor relationshipyes: mild bilateral crossbiteYesFrontoparietal bossing, prominent orbital ridges, mild hypertelorism
Suresh (2009) [71]1138YesYesYesYesYesYes
Kang et al. (2009) [72]1119n.a.YesYesYesYes, orthognatic class III correctionYesHyperhidrosis of the palms and soles, stuffy phalanges, hypoplastic toe nails
Farronato et al. (2009) [73]1128YesYesYesYesAnterior crossbite, class IIIYesFrontal bossing, depressed suborbital region, defective nasal bones
Rasool et al. (2008) [74]1112YesYesYesYesn.a.Yes
Gonzalez et al. (2008) [75]117n.a.n.a.YesYesYes, high-arch palateYesHypertelorism, conductive hearing loss
Purandare et al. (2008) [76]1117Yesn.a.n.a.n.a.n.a.YesAbnormal dentition, short stature, scoliosis, joint laxity, recurrent respiratory infections, learning disability
Hemalatha and Balasubramaniam (2008) [77]1112YesYesYesn.a.n.a.YesTongue-thrusting habit; a Nance palatal arch space maintainer with a fixed tongue crib
McBrien et al. (2008) [78]1118n.a.n.a.Yesn.a.YesYes
Tang et al. (2007) [79]1134n.a.YesYesYes, prominent lower jawn.a.YesHyperplastic nails
Kobayashi et al. (2007) [80]1127YesYesYesYesn.a.YesShortened middle phalanges of the index and little fingers; anterior subluxation of the atlantoaxial joint causing myelopathy
Kuroda et al. (2007) [81]1110,11YesYesYesYes, protrusive chinn.a.n.a.
Tanaka et al. (2006) [82]42 222.65YesYesYesYesYesYesFamily: mother 47.7 y, son 16.3 y, son 14.1 y, daughter 12.5 y
Olszewska (2006) [83]1140YesYesYesYes, reverse OJ in the area of incisorsn.a.YesSuffered from recurrent infections of sinuses, upper airways and ears
Mohan et al. (2006) [84]1122YesYesYesYes, pseudoprognaticYesNoParallel ascending rami, short clavicle, and hypoplsia
Tokuc et al. (2006) [85]1122YesYesYesn.a.n.a.YesOpen anterior fontanel, woman was using a prosthesis
Suba et al. (2005) [86]1113YesYesYesYesYes, severe crossbite therapy: (1) removable appliance to expand the maxilla, (2) multiband treatment of the maxillary dental arch, (3) transversal expansion of the narrow mandibular arch by a Y-shaped screwed appliance, (4) Delaire maskYesNarrow ascending mandibular rami with parallel-sided anterior and posterior borders; open fontanelles and hypoplastic nasal bone; NSBa ML-NL angles narrower, incisal angle wider than normal
Vakili and Jalali (2005) [87]1117Yesn.a.n.a.n.a.n.a.YesHypogonadotropic hypogonadism with delayed puberty
Angle and Rebellato (2005) [88]1110,1YesYesYesYes, skeletal class IIIYes, posterior crossbiteYesFrontal bossing, left thoracic scoliosis
González López et al. (2004) [89]3324.3YesYesYesYesYes, high palate and anterior crossbiteYesModerate bilateral hypoacusia in the mother; hypertelorism in the daughter
Furuuchi et al. (2005) [90]1121YesYesYesn.a.n.a.YesParallel ascending rami, hypoplastic zygomatic bone, and discontinuous zygomatic arch
Cogulu et al. (2004) [91]112n.a.Yesn.a.YesYesYesMicrostoria, clinodactyly, brachydachtyly, nail hypoplasia, horse-shoe kidney, hypospadias, undescended testis, coxa vara, pes planes, genau valga
Petropoulus et al. (2004) [92]1142YesYesYesYesYesYes
Yildirim et al. (2004) [93]1118n.a.n.a.YesYesYesYesEnamel hypoplasia, narrow thorax
Unger et al. (2002) [94]1111.2YesYesYesn.a.n.a.YesHypertelorism, upslanting palpebral fissures
Morava et al. (2002) [95]2221NoYesYesn.a.n.a.YesMetabolic signs of hypophosphatasia, i.e., low ALP and an increase in P5P and phosphoethanolaminuria
Golan et al. (2002) [38, 39]1118YesYesYesYesmolar crossbiteYesWidened thumbs and first toes, iris cyst in the right eye
Machuca-Tzili et al. (2002) [96]21 110n.a.n.a.YesYesYesYesCase 1 (4 y): conductive deafness (adenoidectomy and septoplasty), anterior cataract on the right eye
Case 2 (16 y): frontal and parietal bossing, hypertelorism, conductive deafness, clinodactyly of the V finger in both hands