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Studies of malformation syndromes VID: TheGsyndrome. Further observations

✍ Scribed by Jay Kasner; Enid F. Gilbert; Chirane Viseskul; John Deacon; Jürgen P. R. Herrmann; John M. Opitz


Book ID
104774454
Publisher
Springer
Year
1974
Tongue
English
Weight
693 KB
Volume
118
Category
Article
ISSN
0340-6997

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✦ Synopsis


An anatomic study of the organs of a 2-day-old female infant with severe repiratory manifestations of the G syndrome is presented. This case represents the third affected infant and first affected female of the J family. The first 2 male siblings were reported in previous communications. The developmental defects in this case include: failure of closure of the laryngotracheal groove, a high carina, hypoplasia of the left main stem bronchus, complete absence of the left lung, lack of major fissures of the right lung, a tracheo-esophageal fistula, agenesis of the gallbladder, and a stricture of the duodenum.


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Studies of malformation syndromes of man
✍ Neuh�user, Gerhard ;Kaveggia, Elisabeth G. ;Opitz, John M. 📂 Article 📅 1975 🏛 Springer-Verlag ⚖ 1022 KB

Two patients with a virtually identical physical examination syndrome are reported. Both had severe microbrachycephaly, profound mental retardation and athetoid cerebral palsy. The anomalies include prominence of forehead, hypoplastic midface, mandibular prognathism, apparent midline "cleft" of mand