ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Ohlsson A, Fong KW, Rose TH, Moore DC. Prenatal sonographic
diagnosis of Pena–Shokeir syndrome type I,
or fetal akinesia deformation sequence. Am J Med
Genet 1988; 29: 59–65.
Paladini D, Tartaglione A, Agangi A, Foglia S, Martinelli P,
Nappi C. Pena–Shokeir phenotype with variable
onset in three consecutive pregnancies. Ultrasound
Obstet Gynecol 2001; 17: 163–5.
Shenker L, Reed K, Anderson C, Hauck L, Spark R. Syndrome
of camptodactyly, ankyloses, facial anomalies,
and pulmonary hypoplasia (Pena–Shokeir syndrome):
obstetric and ultrasound aspects. Am J Obstet
Gynecol 1985; 152: 303–7.
Tongsong T, Chanprapaph P, Khunamornpong S. Prenatal
ultrasound of regional akinesia with Pena–
Shokeir phenotype. Prenat Diagn 2000; 20: 422–5.
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Pierre Robin Sequence
Fig. 11.41Pierre Robin sequence. Fetal profile at
21+4weeks,demonstrating severe retrogenia.
Definition: Microgenia and retrogenia are typical
features, presenting a high risk of respiratory
obstruction.
Clinical history/genetics: Occurrence is mostly
sporadic, however, autosomal-dominant and autosomal-recessive
forms have also been reported.
Teratogens: Alcohol, amitriptyline, methotrexate,
valproic acid.
Embryology: It is thought that underdevelopment
of the mandible results in micrognathia
and retrognathia.
Associated malformations: Cleft palate is the
most frequent associated anomaly.
Ultrasound findings: This syndrome can be diagnosed
in the second trimester on demonstration
of microgenia in a sagittal section of the fetal face.
Hydramnios may accompany this feature, especially
in the third trimester. Cleft palate is not
always detectable, as the posterior part of the
palate is usually affected.
Differential diagnosis: Pierre Robin sequence
occurs as an isolated disorder. Microgenia is also
found in achondrogenesis, amniotic banding,
atelosteogenesis, camptomelic dysplasia, Carpenter
syndrome, cerebrocostomandibular syndrome,
CHARGE association, various chromosomal
aberrations, Cornelia de Lange syndrome,
Crouzon syndrome, diastrophic dysplasia, EEC
syndrome, femur hypoplasia–unusual face syndrome,
Fryns syndrome, Goldenhar syndrome,
hydrolethalus, infantile polycystic kidney disease,
Joubert syndrome, Meckel–Gruber syndrome,
multiple pterygium syndrome, MURCS
association, Nager syndrome, Neu–Laxova syndrome,
Mohr syndrome, Pena–Shokeir syndrome,
Roberts syndrome, Seckel syndrome,
Shprintzen syndrome, Smith–Lemli–Opitz syndrome,
Treacher–Collins syndrome.
Procedure after birth: Intubation of the newborn
is often difficult; it can be facilitated by
pulling the tongue out. Occasionally, an emergency
tracheostomy is necessary. Respiratory
obstruction leads to hypoxia and chronic infections,
often resulting in cor pulmonale.
Prognosis: If the infants survive the neonatal
stage, the prognosis is very good, as the microgenia
often shows good remission. Associated
anomalies may affect the prognosis.
Self-Help Organization
Title: Pierre Robin Network
Description: Support and education for individuals,
parents, caregivers and professionals
dealing with Pierre Robin syndrome or
sequence. Literature, newsletter, information,
advocacy. Online e-mail group and bulletin
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