ΩΡΛ ΣΥΓΓΕΝΕΙΣ ΑΝΩΜΑΛΙΕΣ / ΣΥΝΔΡΟΜΑ
GOLDENHAR SYNDROME
FETAL CHOANAL ATRESIA
CONGENITAL NASAL PYRIFORM APERTURE STENOSIS
SOLITARY MAXILARY CENTRAL INCISOR
http://www.craniofacial.net/syndromes-goldenhar
http://www.faces-cranio.org/Disord/Golden.htm
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Goldenhar syndrome
•Facial asymmetry
•Unilateral orbital anomalies
•Ear abnormalities: with appendix or pre-auricular tag (common sign)
•Retrognathia / micrognathia (common sign)
Implications for targeted examinations :
Microtia with preauricualr skin tag should be suspective of Godenhar syndrome
The preauricular tags can be associated with several genetic conditions such as:
•Oculoauriculovertebral dysplasia
•Chromosome arm 11q duplication syndrome
•Chromosome arm 4p deletion syndrome
•Chromosome arm 5p deletion syndrome, and
The normal eye and the microphtalmic eye.
Differential diagnosis:
Franschetti syndrome or Treacher – Collins syndrome: (mandibulofacial dysostosis) presents severe micrognathia with abnormal auricles. Cleft palate and mandibular hypoplasia are present, but without agnathia.
Nager syndrome or acro-facial dysostosis: including radial limb defect, hypoplasic thumbs and hypoplasia of the radius.
Townes-Brocks syndrome: present with other findings such as lop ears, imperforate anus, hypoplastic kidney, ventricular septal defect, limb anomalies (autosomal dominant inheritance).
Kaufman syndrome: Oculo-cerebro-facial syndrome.
Microtia with preauricualr skin tag should be suspective of Godenhar syndrome
PRENATAL SONOGRAPHIC IMAGING OF GOLDENHAR SYNDROME
PRENATAL DIAGNOSIS
Prenat Diagn 2008; 28: 362–363.
Published online in Wiley InterScience
(www.interscience.wiley.com) DOI: 10.1002/pd.1958
RESEARCH LETTER
Prenatal sonographic imaging of Goldenhar syndrome
associated with cystic eye
T. Ghi*, E. Contro, A. Carletti, L. D’Emidio, E. Cera, R. Morandi, G. Cocchi, G. Pilu and G. Pelus
FETAL CHOANAL ATRESIA
Atresia or narrowing (stenosis) of the posterior nasal cavity (choana) 50-60% unilateral and 40-60% bilateral.
Purely bony atresia in 30%, mixed bony-membranous malformation in 70% and purely membranous rare.
Older literature bony 90% and membranous 10%.
Most common congenital anomaly of the nose.
1in 5,000 to 10,000
Differential Diagnosis:
Congenital pyriform aperture stenosis
Nasolacrimal duct mucocele
Nasoethmoid cephalocele
Nasal dermoid
Take Home Messages;
Enlargement of the posterior vomer in bony atresia.
CHARGE SYNDROME:
C- Coloboma
H-Heart/cardiovascular anomalies
A-Atresia of choana
R-Retarded growth and development
G-Genital hypoplasia
E-Ear anomalies
Other associated syndromes:
Apert syndrome
Crouzon syndrome
de Lange syndrome
Fetal alcohol syndrome
DiGeorge syndrome
Treacher-Collins syndrome
Associated with chromosome 18,12, 22, XO abnormalities
http://www.fetalultrasound.com/online/text/30-232.HTM
Associated Syndromes
•33% sporadic that is present in otherwise normal individuals (5).
•66% are associated with a recognized syndrome:
1.CHARGE Association (59% have bilateral choanal atresia).
2.9p Syndrome (6).
3.Treacher Collins Syndrome.
4.Aperts Syndrome.
Ultrasound
· Diagnosis is usually made at postnatal CT scan ± nasal contrast. |
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Table 1
Conditions Associated with Choanal Atresia
Acrophalyngosyndactyly
Amniotic band syndrome
Malrotation of the bowel
Crouzon syndrome
CHARGE* syndrome
Antley-Bixter syndrome
de Lange syndrome
Fetal alcohol syndrome
DiGeorge syndrome
Treacher Collins syndrome
Chromosome 18, 21, and XO anomalies
Polydactyly
Colobomas
Clefts of the face, nose, and palate
Congenital heart disease
Tracheoesophageal fistula
Craniosynostosis
*Colboma of the eye, heart anomaly, choanal
atresia, retardation, and genital and ear anomalies.
ΤΑ ΑΜΦΟΤΕΡΟΠΛΕΥΡΑ ΠΕΡΙΣΤΑΤΙΚΑ ΑΤΡΗΣΙΑΣ ΧΟΑΝΗΣ ΕΙΝΑΙ ΑΔΥΝΑΤΟΝ ΝΑ ΔΙΑΓΝΩΣΤΟΥΝ ΟΤΑΝ ΟΙ ΒΛΑΒΗ ΕΙΝΑΙ ISOLATED .ΟΤΑΝ ΕΧΟΥΜΕ ΑΤΡΗΣΙΑ ΧΟΑΝΗΣ ΕΤΕΡΟΠΛΕΥΡΗ ΕΧΟΥΝ ΑΝΑΦΕΡΘΕΙ ΠΕΡΙΣΤΑΤΙΚΑ ΔΙΑΓΝΩΣΗΣ ΟΠΩΣ ΤΟ ΠΑΡΑΚΤΩ
ΜΠΟΡΟΥΜΕ ΝΑ ΥΠΟΠΤΕΥΘΟΥΜΕ ΠΡΟΒΛΗΜΑ ΣΤΙΣ ΡΙΝΙΚΕΣ ΧΟΑΝΕΣ ΟΤΑΝ ΕΧΟΥΜΕ HIGH ARCED PALATE ΣΕ ΠΙΘΑΝΑ ΣΥΝΔΡΟΜΑ ΤΡΙ 21 /GOLDENHAR/GHARGE ASSOCIATIONS.TRCER COLLINS /APERT
http://sonoworld.com/TheFetus/Case.aspx?CaseId=3046&answer=1
TO ΒΕΛΑΚΙ ΔΗΧΝΕΙ CYSTIC CHOANA WITH ATRESIA KAI TO ΑΣΤΕΡΑΚΙ ΤΗΝ ΚΑΤΩ ΡΙΝΙΚΗ ΚΟΓΧΗ
J La State Med Soc. 2000 Nov;152(11):546-50.
Congenital nasal pyriform aperture stenosis.
Department of Otolaryngology-Head and Neck Surgery, Tulane University School of Medicine, New Orleans, Louisiana, USA
Abstract
Congenital nasal pyriform aperture stenosis is a rare cause of pediatric nasal airway obstruction. As infants are obligate nasal breathers, nasal obstruction and even severe nasal congestion can lead to apnea and respiratory distress. Congenital nasal pyriform aperture stenosis was first described by Brown et al in 1989. The narrowing of the nasal pyriform aperture is thought to be due to bony overgrowth of the nasal process of the maxilla during fetal development. Because of the association this anomaly has with other midline defects, such as holoprosencephaly, it is important to recognize it and pursue a thorough workup. We present a case of a patient with pyriform aperture stenosis and solitary central megaincisor. This patient initially presented to our clinic with a history of nasal airway obstruction, poor feeding, and failure to thrive.
Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly that has been described as an isolated dental finding or part of the so-called ‘SMMCI syndrome’ (OMIM number 147 250). SMMCI syndrome is a complex, autosomal dominant developmental disorder in which an SMMCI is seen in association with midline nasal cavity defects (choanal atresia, mid-nasal stenosis, nasal pyriform aperture stenosis) and variably holoprosencephaly1. It is one of the presentingmicroforms of the holoprosencephaly spectrum, and probably results from a developmental field defect of the forebrain, arising from unknown events occurring between the 35th and 38th days in utero2. While prenatal diagnosis of holoprosencephaly is readily made by both fetal ultrasonography and magnetic resonance imaging (MRI), identification of SMMCI with nasal pyriform aperture stenosis is also important owing to the risk of airway obstruction, as neonates are obligate nasal breathers. Of the known holoprosencephaly-associated mutations – SHH, ZIC2, SIX3, TGIF – mutations in the SHH gene have been most predictive of holoprosencephaly in patients with SMMCI1. Autosomal dominant holoprosencephaly was not suspected as parental phenotypic features were normal and both genetic testing and family history were negative. The couple was thus reassured that their risk of recurrence would be approximately 6%. In this case of SMMCI syndrome, MRI provided detailed insight into fetal anatomy and pathology, aiding prenatal diagnosis and facilitating parental counseling. MRI, however, enabled antenatal diagnosis of SMMCI syndrome with semilobar holoprosencephaly and thus ascertainment of poor neurodevelopmental prognosis. The estimated incidence of SMMCI syndrome is 1 : 50 000 live births3, in contrast to the other major traits present in this syndrome, namely choanal atresia (incidence of 1 : 5000 live births4) and holoprosencephaly (1 : 16 000 live births5). Familial aggregation occurs in the form of autosomal dominant inheritance. In patients with SMMCI syndrome without holoprosencephaly or holoprosencephaly-like phenotypes and normal MRIs, known holoprosencephaly geneticmutations (SHH, SIX3, TGIF and ZIC2) have been identified in some, but not all cases. Additionally, deletions on chromosomes 7 and 18 in regions that harbor holoprosencephaly genes have been reported6. Other associations include diabetic pregnancies (14%), preterm labor and low birth weight (37%)7.
Eur J Pediatr. 1998 Jan;157(1):39-44.
Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis.
Lo FS, Lee YJ, Lin SP, Shen EY, Huang JK, Lee KS.
Department of Paediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Abstract
Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of combined SMCI and CNPAS, obtained from the literature. Of the patients with SMCI, 69% had short stature, 48% growth hormone deficiency or hypopituitarism, 23% pituitary absence or hypoplasia, and 17% had del (18p-) or r(18). Of the patients with CNPAS, 63% had SMCI, 75% were short, 43% had hypopituitarism or growth hormone deficiency, 36% had pituitary or CNS anomaly, and 33% had del (18p), r(18), or del (13q).
CONCLUSIONS:
Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.
Solitary median maxillary central incisor (SMMCI) syndrome
Department of Dentistry, Royal Children's Hospital, Flemington Rd Parkville, 3052 Victoria, Australia
Orphanet Journal of Rare Diseases 2006, 1:12 doi:10.1186/1750-1172-1-12
The electronic version of this article is the complete one and can be found online at: http://www.OJRD.com/content/1/1/12
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.
Association with known syndromes and associations
• CHARGE association (1/21 cases RCH series) [see also [30,40]].
• VACTERL association (2/21 cases RCH series).
• VCF (Velocardiofacial) {del(22)q11.2 syndrome} (1/21 cases RCH series) [see also [30,41]].
• Autosomal dominant HPE.
• Ectodermal Dysplasia [see also [42,43]].
• Duane retraction syndrome [44].
Association with chromosome abnormalities
• r(18) [48]
• 47XXX [52]
• del(22q11.2)
Association with mutations in the gene SHH
The relevance of the association of SMMCI with these syndromes and chromosome anomalies is still unknown.