Face Flashcards
What are the Face fetal anomalies?
9 Anophthalmia Cataract Dacryocystocele Epignathus Facial cleft Hypertelorism Hypotelorism Micrognathia Nose anomalies
Anophthalmia
Prevalence: 1 in 20,000 births.
Ultrasound: In microphthalmia there is decrease in the size of the eyeball and in anophtalmia there is absence of the eyeball, optic nerve and chiasma. Both can be unilateral or bilateral.
Assoc abnorm: Chromosomal defects, mainly trisomy 13, are found in >50% of cases.
Genetic syndromes are found in >50% of cases. The most common are Goldenhar syndrome (sporadic; anophthalmia, ear defects, facial cleft, facial macrosomia), Fraser syndrome (autosomal recessive; microphthalmia, facial cleft, tracheal atresia, bilateral renal agenesis, heart defects, syndactyly or polydactyly), Fryns syndrome (autosomal recessive; anophthalmia, facial cleft, micrognathia, ventriculomegaly, diaphragmatic hernia).
Follow up: Standard follow-up in isolated cases. If there is an underlying syndrome antenatal care should be adjusted according to the risks of the condition.
Prognosis: Isolated: good.
Syndromic: very poor.
Recurrence: Isolated: no increased risk.
Part of trisomy 13: 1%.
Part of an autosomal recessive condition: 25%.
Cataract
Prevalence: 1 in 10,000 births.
Ultrasound: Unilateral or bilateral opacity of the lens.
Bilateral lesions are usually syndromic, whereas unilateral are usually related to fetal infection.
Assoc abnorm: The incidence of chromosomal defects is not increased. Genetic syndromes are found in about 10% of cases. The most common include: Walker-Warburg (autosomal recessive; type II lissencephaly, agenesis of corpus callosum, cerebellar malformations, cataract) and Chondrodysplasia punctata (X-linked recessive; cataract, symmetric rhizomelic shortening and epiphyseal calcifications). Congenital infection (especially rubella, toxoplasmosis, CMV) found in 30% of cases.
Follow up: Standard follow-up in isolated cases.
If suspected fetal infection, then follow-up every 2 weeks.
Prognosis: Isolated: generally good. Ophathmologic intervention after birth has good results with an unaffected quality of life.
Syndromic: prognosis is generally poor.
Recurrence: Isolated: no increased risk of recurrence.
Part of syndroms: 25%.
Dacryocystocele
Prevalence: 1 in 4,000 births.
Ultrasound: Cyst (75% unilateral and 25% bilateral) between the lower part of the orbit and the nose.
About 90% of dacrocystoceles are due to delayed canalization of the lacrimal duct beyond 32 weeks’ gestation.
Differential diagnosis includes anterior encephaloceles (they are often associated with intracranial abnormalities, such as hydrocephalus), hemangiomas (they are usually solid or multiseptated), and dermoid cysts (these are usually located superolaterally).
Assoc abnorm: The incidence of chromosomal abnormalities and genetic syndromes is not increased.
Follow up: Follow-up should be standard.
Prognosis: They resolve spontaneously either in the 3rd trimester or within the first 6 months of life.
Occasionally, nasolacrimal duct probing may be required to open the obstruction.
Recurrence: No increased risk of recurrence.
Epignathus
Prevalence: 1 in 200,000 births.
Ultrasound: Solid tumor arising from the sphenoid bone, hard and soft palate, the pharynx, the tongue and jaw.
The tumor grows into the oral or nasal cavity or intracranially.
Differential diagnosis includes neck teratomas, encephaloceles, and other tumors of the facial structures.
Polyhydramnios (due to pharyngeal compression) is usually present.
Assoc abnorm: The incidence of chromosomal abnormalities and genetic syndromes is not increased.
Follow up: Follow-up scans every 4 weeks to monitor growth of the tumor and assess amniotic fluid volume. If polyhydramnios develops, monitor cervical length every 1 week to determine the need for amniodrainage.
Fetal MRI at 32 weeks to assess the relation to adjacent structures.
Prognosis: Depends on the size of the lesion and the involvement of vital structures.
Polyhydramnios has been associated with poor prognosis. The major cause of neonatal death is asphyxia due to airway obstruction.
Surgical resection with a normal postoperative course is possible.
Recurrence: No increased risk of recurrence.
Facial Cleft
Prevalence: 1 in 700 births.
More common in males than females and in Whites than Blacks.
In 50% of cases, both the lip and palate are affected, in 25% only the lip and in 25% only the palate.
Unilateral in 75% of cases (more common on the left side) and bilateral in 25%.
Ultrasound: The typical cleft lip appears as a linear defect extending from one side of the lip into the nostril. Cleft palate associated with cleft lip may extend through the alveolar ridge and hard palate, reaching the floor of the nasal cavity or even the floor of the orbit.
Both transverse and coronal planes are necessary for the diagnosis. Color Doppler may be useful to demonstrate flow across the palate in the case of cleft palate.
Diagnosis of isolated cleft palate is difficult.
Diagnosis of cleft lip and palate at 11-13 weeks’ gestation can be achieved by targeted examination of the retronasal triangle in a coronal view and the maxillary gap in the standard mid-sagittal view of the face used routinely in screening for chromosomal abnormalities.
Assoc abnorm: Chromosomal abnormalities, mainly trisomies 13 and 18, are found in 1–2% of cases. Unilateral cleft lip is not associated with chromosomal abnormalities.
Associated with any one of >400 syndromes in 30% of cases. The most common are: Goldenhar syndrome (sporadic; anophthalmia, ear defects, facial cleft, facial macrosomia), Treacher–Collins syndrome (autosomal recessive or autosomal dominant with 60% de novo mutations; hypoplasia of the maxilla and zygomatic bone, micrognathia, cleft palate, malformed or absent ears), Pierre–Robin anomalad (micrognathia or retrognathia, cleft palate and glossoptosis. In half of cases this a sporadic isolated finding and in the other half it is associated with other anomalies or with recognized genetic and non-genetic syndromes).
Follow up: Follow-up should be standard.
Prenatal consultation with multidisciplinary team.
Prognosis: This primarily depends on the presence and type of associated anomalies.
Isolated: Good prognosis and normal survival.
Surgical repair is at 3-6 months of age.
Long-term issues in children with cleft lip and palate include dental abnormalities, hearing and olfactory problems, midface hypoplasia, and psychological problems. About 25% have speech abnormalities requiring secondary palate surgery and speech therapy. Dental anomalies include missing, extra, or malpositioned teeth and they require braces on their permanent teeth. Most children have hearing abnormalities and may require myringotomy with placement of bilateral tympanotomy tubes to improve hearing. Regular psychological screening is recommended to assess the child’s cognitive development, behaviour, and self-image.
Recurrence: Isolated: 5% if one sibling or parent is affected and 10% if two siblings are affected.
Syndromic: all forms of inheritance have been described, including autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive.
Hypertelorism
Prevalence: 1 in 20,000 births.
Ultrasound: Increased interorbital diameter >95th percentile.
Assoc abnorm: Chromosomal defects, mainly trisomy 13, are very rare.
Genetic syndromes are found in >50% of cases. The most common are frontonasal dysplasia (sporadic; hypertelorism, midline facial cleft, abnormalities of the nose, cranium bifidum ocultum), craniosynostosis (including Apert, Carpenter, Crouzon) and Neu-Laxova syndrome (autosomal recessive; hypertelorism, microcephaly, agenesis of corpus calosum, contractures in the upper and lower limbs, fetal growth restriction).
Associated defects: frontal encephalocele and agenesis of the corpus callosum.
Follow up: Isolated: follow-up should be standard.
Syndromic: antenatal care should be adjusted according to the risks of the condition.
Prognosis: Isolated: generally good but in severe cases the cosmetic implications are important. There might be impaired stereoscopic binocular vision.
Syndromic: generally poor with high risk of neurodevelopmental delay.
Recurrence: Isolated: no increased risk of recurrence.
Hypotelorism
Prevalence: 1 in 20,000 births.
Ultrasound: Decreased interorbital diameter <5th percentile.
Hypotelorism is part of the midline migration defects together with holophrosecephaly (which is almost always present). The degree of hypotelorism can be extreme as in cyclopia.
Assoc abnorm: Chromosomal abnormalities, mainly trisomy 13, are found in 50% of cases.
Genetic syndromes are very frequent and the most common is Meckel-Gruber syndrome (autosomal recesive, lethal condition characterized by occipital encephalocele, multicystic kidneys and post-axial polydactyly).
Follow up: Follow-up should be standard.
Prognosis: Part of trisomy 13: lethal.
Normal karyotype: high risk of neurodevelopmental delay depending on the degree of holoprosencephaly.
Recurrence: Isolated: no increased risk.
Part of trisomy 13: 1%.
Part of an autosomal recessive condition: 25%.
Micrognathia
Prevalence: 1 in 1,500 births.
Ultrasound: Subjective finding of prominent upper lip and receding chin in the mid-sagittal view of the face. These findings may be due to micrognathia (short mandible) or retrognathia (backward displacement of the mandible).
Severe micrognathia is associated with polyhydramnios (>25 weeks’ gestation), due to glossoptosis (normal tongue obstructing small oral cavity).
Assoc abnorm: Chromosomal abnormalities, mainly trisomy 18 and triploidy, are found in about 30% of cases.
Associated with >50 genetic syndromes, including:
Pierre–Robin anomalad: micrognathia or retrognathia, cleft palate and glossoptosis. In half of cases this a sporadic isolated finding and in the other half it is associated with other anomalies or with recognized genetic and non-genetic syndromes).
Treacher Collins syndrome: autosomal recessive or autosomal dominant with 60% de novo mutations; hypoplasia of the maxilla and zygomatic bone, micrognathia, cleft palate and malformed or absent ears.
Otocephaly: sporadic: severe micrognathia or agnathia, and mid-line defects, including holoprosencephaly, anterior encephalocele, cyclopia, aglossia, and mid-facial location of the ears.
Follow up: Ultrasound scans every 4 weeks to monitor growth and amniotic fluid.
Prognosis: Neonatal mortality: >80% due to associated abnormalities.
In Pierre–Robin anomalad survival is good.
Recurrence: Isolated: no increased risk of recurrence.
Part of trisomies: 1%.
Part of genetic syndromes: 25% to 50%.
Nose Anomalies
Prevalence: 1 in 10,000 births.
Ultrasound: There is a spectrum of midline abnormalities of the nose in association with holoprosencephaly, including: arhinia (complete absence of the nasal structures), proboscis (soft tissue appendage projecting from just below the forehead) and single nostril (usually central).
Assoc abnorm: Chromosomal abnormalities, mainly trisomy 13, are found in 40% of cases.
Holoprosencephaly in all cases. Genetic syndromes are found in 20% of cases.
Follow up: If pregnancy continues, follow-up should be standard.
Prognosis: Very poor due to the associated holoprosencephaly and chromosomal abnormalities.
Recurrence: Isolated: 6%
Part of trisomy 13: 1%
Part of genetic syndromes: 25% to 50%.
