ΠΡΟΣΩΠΟ
NASOPHARYNGEAL TERATOMA
CONGENITAL EPULIS
RANULA
MICROCEPHALY
MICROGNATHIA
MIDFACIAL HYPOPLASIA
BINDER PHENOTYPE
Γενετική και μοριακή διάγνωση κρανιοσκελετικών δυσπλασιών
|
Epulis(8) |
Benign granular cell tumor which is solid. It arises from the alveolar ridge. Color and power Doppler usually demonstrates marked blood flow in the tumor. It is a self limiting lesion and responds to conservative excision. |
|
Foregut duplication cyst(10) |
Enteric duplication cyst may occur in the floor of the mouth. It is cystic in nature and may closely mimic a ranula. |
|
Epignathus(11,12) |
Oropharyngeal teratoma mostly arising from the palate. It appears as solid-cystic tumor with mixed areas of hypo and hyperechogenicity, may have calcifications and is found in association with polyhydramnios. It can cause significant morbidity and mortality |
|
Median palatal mucosal cyst [Epstein’s pearl] |
Benign and self resolving |
|
Vascular hamartomas (4,5) |
Hemangiomas or lymphangiomas [cystic hygromas] and are usually located on the tongue. These tumors may appear as solid- cystic masses on ultrasound and require surgical excision. |
|
Other tumors of the tongue (1-16) |
• Thyroglossal duct cyst |
Nasopharyngeal teratomas are often associated with polyhydramnios, nonimmune fetal hydrops, and exophathalmos. Although the majority of these tumors are benign in nature, fetal and neonatal death is very common due to the local mass effect, which produces life-threatening dysfunction (basocranial teratomas) or cessation of function (respiratory compromise from a nasopharyngeal or cervicothyroidal lesions). Most cases reported in the literature revealed dismal outcome4-6.
Management
In those cases where the lesions were diagnosed early in the course of pregnancy, parents should be informed of the guarded prognoses and offered an option to terminate the pregnancy.
If the fetus is viable at the time of diagnosis, most authorities advise a cesarean section as a route of delivery. A pediatric surgeon and an experienced neonatologist should be present at the time of delivery to provide immediate resuscitation, endotracheal intubation and even a tracheotomy if an airway cannot be secured.
DIFFERENTIAL DIAGNOSIS
1. Teratomas of the neck.
2. Cephaloceles.
3. Conjoined twins.
4. Other facial tumors (hemangioma, lymphangioma, neurofibroma and granular myoblastoma) (9).
Conclusion
In conclusion, both distorted intracranial anatomy and heart failure may further complicate prognosis and outcome in fetuses with epignathus and should be included as potential complications during patient counseling.
6% of fetuses have associated anomalies:
Multiple facial hemangiomas.
Cleft palate.
Bifid tongue or nose.
Branchial cysts.
Hypertelorism.
Umbilical hernia.
Congenital heart defects.
Chromosomal aberrations that have been associated include (10-12): 45,Xx/46,r(X) mosaicism; trisomy 13; duplication of 1q and 19 p; inverted proximal 1q duplication.
CONGENITAL ORAL GRANULAR CELL MYOBLASTOMA(congenital epulis,)
Congenital oral granular cell tumor (congenital
epulis, granular cell myoblastoma) is a rare tumor of
infancy, usually situated in the alveolar ridge, predominantly
in the maxilla.4 The diameter may vary
from several millimeters to several centimeters. The
tumor can be pedunculated or broad based and is
covered by smooth nonulcerated mucosa. The cause
of this tumor in neonates is unknown, and it has an
8:1 ratio of female predominance.7After surgical removal, no recurrence or malignant
changes have been reported even after incomplete
excision, and spontaneous regression may occur.9
Since these tumors represent one of those conditions
in which the prenatal diagnosis can make the difference
between the life and death of a neonate, correct
counseling of the parents is mandatory to ensure a safe
treatment regimen. The counseling process should
include discussion of the natural history and prognosis of these tumors and the possible options of either in utero treatment or termination of pregnancy. A table
summarizing the main clinical finding in the previous
cases would be of minimal value to the reader, since in
all of these cases the clinical findings were the same (a
tumor mass extending out of the fetal mouth).
Delivery should occur in a tertiary center, capable of
handling cases that require complicated procedures.
RANULA
- RETENTION CYST, MUCOCELE, ORAL PSEUDOCYST
A congenital ranula is a cystic malformation seen in the oral cavity that usually results from the obstruction of the sublingual or minor salivary glands. These pseudocysts are normally located in the sub-lingual space between the mylohyoid muscle and the lingual mucosa.
PREVALENCE
The incidence of a congenital ranula is estimated to be 0.74%.
ETIOLOGY
A ranula is a fluid collection that occurs either due to:
1. Disruption of minor salivary ducts leading to extravasation of mucous structures into adjacent structure and resulting in a mucous extravasation cyst. These are more common in children and young adults and rarely occur in neonates. The ranula is not lined by an epithelium in this case.
2. A blocked duct causing proximal expansion and resulting in a mucous retention cyst, seen in neonates and the fluid collection is lined by salivary duct epithelium.
Types: Ranulas can be classified according to their site of location. They can be
• A simple ranula – located in the floor of the mouth,
• A cervical ranula – located in the paracervical region,
• And a plunging ranula – located near the upper airway and extending into the floor of the mouth. [plunging ranulas exhibit a so called ‘tail sign’ on MRI].
ULTRASOUND
• A hypoechoic cystic mass in the floor of the mouth, with no solid components.
• If very large, the mass may displace the tongue upwards.
• No vascularity can be seen within this cystic structure.
If the mass becomes too large, it may interfere with swallowing resulting in polyhydramnios.
MICROCEPHALY
Small head, and is usually a product of a small underdeveloped brain, when compared to the age and body size of the fetus.
Genetic Causes
Trisomies- 13, 18, 21, 22.
4p-, 5p-, 18p-, 18q-.
Aperts Syndrome.
Bloom Syndrome.
Cockaynes Syndrome.
Dubowitz Syndrome.
Fanconi's Pancytopenia.
Lissencephaly Syndrome.
Meckel Gruber Syndrome.
Menkes Syndrome.
Primary microcephaly.
Roberts Syndrome.
Smith- Lemli-Opitz Syndrome.
Williams Syndrome.
Many other less frequent syndromes.
Environmental
TORCH infections.
Fetal alcohol syndrome.
Fetal hydantoin syndrome.
Asphyxia.
Maternal phenylketonuria.
Irradiation.
Ultrasound Obstet Gynecol. 2010 Aug;36(2):154-8. doi: 10.1002/uog.7556.
Developmental outcome of isolated fetal microcephaly.
Stoler-Poria S, Lev D, Schweiger A, Lerman-Sagie T, Malinger G.
Source
Department of Behavioral Sciences, Academic College of Tel Aviv, Tel Aviv, Israel.
Prenatally diagnosed head circumference between 2 SD and 3 SD below the gestational mean is not a risk factor for later abnormal neuropsychological development.
MICROGNATHIA
PDF 29
The right hand has a shortened thumb with 2 malformed digits. Cornelia de Lange syndrome
was considered as a possible prenatal diagnosis. After birth, this syndrome was confirmed on the basis of growth restriction, long eyelashes, characteristic
hair growth on the back, and hand abnormality (neonatal correlation on right).
Clinical Outcome of Fetuses With Sonographic Diagnosis of Isolated Micrognathia
Vettraino, Ivana M. MD; Lee, Wesley MD; Bronsteen, Richard A. MD; Harper, Cheryl E. CGC; Aughton, David MD; Comstock, Christine H. MD
Abstract
OBJECTIVE: To describe the clinical outcome of fetuses with the prenatal sonographic diagnosis of isolated micrognathia.
METHODS: A retrospective review of fetuses and infants with the prenatal diagnosis of isolated micrognathia for April 1990 to August 2001 was undertaken. Isolated micrognathia was considered if no other anatomic, growth, or amniotic fluid abnormalities were detected by a detailed ultrasound examination. Sources of outcome data included maternal and neonatal medical records, prenatal genetics records, and karyotype results.
RESULTS: Fifty-eight fetuses with the diagnosis of micrognathia were identified. Fifteen fetuses (26%) had isolated micrognathia by prenatal sonogram. After neonatal examination, 14 of 15 were found to have at least one additional abnormality. Eleven had a cleft of the soft and/or hard palate. Seven (54%) of 13 live-born neonates had mild to severe airway obstruction that required intervention. Four (31%) of 13 experienced feeding difficulties of varying duration. Follow-up data were available for 1 to 10 years. Eight (62%) of 13 children are reported to be doing well. Five (38%) of 13 children are reported to have mild to severe developmental delay.
CONCLUSION: If micrognathia is the only sonographic finding identified, physicians and families should be prepared for possible respiratory difficulty at delivery, the presence of a cleft palate, and/or developmental delay.
Fetal micrognathia: objective assessment and associated anomalies on prenatal sonogram.
Source
Department of Gynecology and Obstetrics, Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
Abstract
OBJECTIVE:
To determine the accuracy and characteristics of prenatally detected fetal micrognathia.
METHODS:
A retrospective analysis of all pregnancies with the suspicion of fetal micrognathia was performed. The affected fetuses were reassessed by estimation of the inferior facial angle (IFA) and the frontal nasomental angle on stored gray scale images to objectively establish the diagnosis.
RESULTS:
Of the 28.935 ultrasounds (USs) reviewed, 58 cases were eligible and 4 were excluded because of inconclusive data. The mean values for IFA and frontal nasomental angle were 44.8° and 123.3°, respectively. In 33 cases, the pregnancy was terminated. Four fetuses died sub partu or immediately after birth, five were stillborn. Invasive testing in 40/54 cases revealed aneuploidies in 35%. Associated anomalies comprised musculoskeletal disorders (43%) and non-skeletal anomalies (15%). Less than one fifth (9/54) were alive beyond postnatal period. Four fetuses had an isolated micrognathia, one of which was found to have a cleft palate postnatally.
CONCLUSION:
The diagnosis of micrognathia has a crucial impact on both prenatal and postnatal outcomes of affected individuals due to its association with additional abnormalities. A detailed sonographic survey using objective criteria for defining micrognathia is mandatory. Once the diagnosis is confirmed, an intensive interdisciplinary counseling of the parents is needed.
Copyright © 2011 John Wiley & Sons, Ltd.
Binder syndrome
Binder Phenotype is now considered to be a heterogeneous phenotype (associated with different etiology), rather than a single nosologic entity.
Isolated Binder Phenotype transmission would be autosomal dominant, according to different authors, but doubted by others authors as Levaillant.
Binder Phenotype can also be an important sign of chondrodysplasia punctata (CDDP), a heterogeneous condition characterized by punctate calcifications secondary to abnormal calcium deposits during endochondrogenesis. Classification of chondrodysplasia punctata is classically divides in three groups of etiology:
1. Chromosomal abnormalities: As Trisomy 21.
2. Metabolic congenital abnormalities: As Zellweger syndrome.
3. Disruption of vitamin K metabolism: caused by inherited or extrinsic factors
3.1 Inherited etiology: X-linked recessive brachytelephalangic type of chondrodysplasia punctata = CDPX1 caused by mutations of ARSE, localized in Xp22.3. ARSE codes Aryl Sulfatase Enzyme, a system Golgi enzyme. His activity is inhibited in vitro by Warfarin.
3.2 Extrinsic factors:
- Prenatal exposure to Phenytoin and Alcohol
- Prenatal exposure to Coumarin derivatives: especially between 6th and 9th weeks
- Maternal chronic disease: with important vitamin K deficiency during first trimester. So, untreated coeliac disease, secondary short bowel syndrome or another type of digestive malabsorption and intractable vomiting of early pregnancy can be responsible for important vitamin K deficiency, and so, Binder Phenotype.
Recently, according to Levaillant’s article and others authors, Binder Phenotype was observed in half the siblings born to a mother with auto-immune disease. Conversely, Auto-Immune diseases have been observed in mother of infants with chondrodysplasia punctata with Binder Phenotype. Nevertheless, the relation between chondrodysplasia punctata with Binder Phenotype and disturbance of maternal vitamin K metabolism is still unclear. But according to different authors, Systemic Lupus Erythematosus during pregnancy can cause fetal pathology, as nasal hypoplasia and stippled epiphyses, mimicking fetal Warfarin syndrome.