Craniofrontonasal dysplasia in two male sibs. 1993

U Natarajan, and M Baraitser, and K Nicolaides, and C Gosden
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.

Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.

UI MeSH Term Description Entries
D008297 Male Males
D009666 Nose A part of the upper respiratory tract. It contains the organ of SMELL. The term includes the external nose, the nasal cavity, and the PARANASAL SINUSES. External Nose,External Noses,Nose, External,Noses,Noses, External
D001848 Bone Diseases, Developmental Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D005147 Facial Bones The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113) Bone, Facial,Bones, Facial,Facial Bone
D005333 Fetus The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. Fetal Structures,Fetal Tissue,Fetuses,Mummified Fetus,Retained Fetus,Fetal Structure,Fetal Tissues,Fetus, Mummified,Fetus, Retained,Structure, Fetal,Structures, Fetal,Tissue, Fetal,Tissues, Fetal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012886 Skull The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN. Calvaria,Cranium,Calvarium,Skulls

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