Midline Cleft Lip Research Articles

Fetal cleft lip with and without cleft palate: US classification and correlation with outcome.

To develop a prenatal ultrasonographic (US) classification of cleft lip with or without cleft palate (CL-P) and correlate the classification with fetal outcome. During a 5-year period (1988 to 1993), 65 fetuses with CL-P were identified with prenatal US at one of two referral centers for high-risk obstetric cases. Sonograms from each case were prospectively and retrospectively evaluated. Clefts were classified into one of five categories: type 1, cleft lip alone (n = 5); type 2, unilateral cleft lip and palate (n = 15); type 3, bilateral cleft lip and palate (n = 20); type 4, midline cleft lip and palate (n = 21); and type 5, facial defects associated with amniotic bands or limb-body-wall complex (n = 4). The US classification correlated with severity of defect and fetal outcome. Type 4 and 5 clefts were universally associated with concurrent anomalies and a fetal outcome, type 1 clefts with a lower rate of anomalies (20%), and type 2 and 3 clefts with intermediate prognosis. Chromosome abnormalities also varied with the type of cleft as follows: type 1, 0%; type 2, 20%; type 3, 30%; type 4, 52%; and type 5, 0%. Prenatal classification of fetal CL-P correlates with fetal outcome. This classification should help counseling and management.

New findings in short rib syndrome

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.

Sonography of facial features of alobar and semilobar holoprosencephaly.

Twenty-seven cases of alobar/semilobar holoprosencephaly were reviewed to determine and classify the associated facial abnormalities detected with prenatal sonography. All but one case were diagnosed prospectively with sonography. Facial abnormalities were present in 24 of 27 cases and were detected in 14 (58%) of 24 fetuses on prenatal sonography. Prenatal abnormalities detected by sonography included cyclopia (four of five), ethmocephaly (two of three), cebocephaly (one of three), midline cleft lip (four of eight), lateral cleft lip (two of two), and mild hypotelorism (one of three). One or more extrafacial anomalies were present in 14 (52%) of 27 fetuses. Other major structural anomalies detected prenatally by sonography included meningomyelocele (two of two), renal dysplasia (five of six), omphalocele (three of four), esophageal atresia (zero of three), and cardiac defects (one of seven). Chromosomal analysis revealed abnormal karyotype in 13 (50%) of the 26 fetuses in which it was performed; the most common abnormality was trisomy 13 (seven cases). The perinatal mortality rate was 89% (24 of 27); three neonates with holoprosencephaly were alive when discharged from the hospital. It is concluded that when a major cystic abnormality of the fetal brain is detected, prenatal sonographic analysis of midline facial defect may allow more definitive diagnosis of alobar or semilobar holoprosencephaly; affected fetuses often have other major structural abnormalities, and the outcome is nearly always fatal.

Rare mid-line congenital anomalies of the face.

Three rare cases of congenital anomalies (mid-line nasal proboscis, subintegumental mid-line cleft lip and congenital palatoglossal synechia) are presented with their management. The embryological considerations of these cases are discussed.

The Morning Glory Syndrome Associated with Sphenoidal Encephalocele

A 13-year-old girl was found to have a “morning glory” optic disc anomaly associated with remnants of the primitive hyaloid vasculature, midline cleft lip and palate, agenesis of the corpus callosum, and a sphenoidal encephalocele. The association of these developmental anomalies indicates that the “morning glory” optic disc anomaly may occur as part of a more extensive syndrome of midline cranioencephalic dysraphism.

Mid-Line Cleft Lip and Palate with Hydranencephaly and Microcephaly

Mid-Line Cleft Lip and Palate with Hydranencephaly and Microcephaly